Ophthalmology iris causes of color change.pptx

Different causes affect the color of the iris

1. Q Siderosis Rb Congenital Horner’s Melanoma JXG Waardenburg syndrome Unilateral Xalatan use Oculodermal melanocytosis Incontinentia pigmenti Fuchs heterochromic iridocyclitis LIGHTER iris abnormal DARKER iris abnormal 1 …into their respective categories Heterochromia iridis : Divide these… Start at the top and work down the list

2. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis sis LIGHTER iris abnormal DARKER iris abnormal Siderosis Rb Congenital Horner’s Melanoma JXG Waardenburg syndrome Unilateral Xalatan use Oculodermal melanocytosis Incontinentia pigmenti Fuchs heterochromic iridocyclitis 2 …into their respective categories Heterochromia iridis : Divide these…

3. A DARKER iris abnormal: Siderosis Rb LIGHTER iris abnormal DARKER iris abnormal Siderosis Rb Congenital Horner’s Melanoma JXG Waardenburg syndrome Unilateral Xalatan use Oculodermal melanocytosis Incontinentia pigmenti Fuchs heterochromic iridocyclitis 3 …into their respective categories Heterochromia iridis : Divide these…

4. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal Siderosis Rb Congenital Horner’s Melanoma JXG Waardenburg syndrome Unilateral Xalatan use Oculodermal melanocytosis Incontinentia pigmenti Fuchs heterochromic iridocyclitis 4 …into their respective categories Heterochromia iridis : Divide these…

5. A LIGHTER iris abnormal: Congenital Horner’s DARKER iris abnormal: Siderosis Rb Melanoma LIGHTER iris abnormal DARKER iris abnormal Siderosis Rb Congenital Horner’s Melanoma JXG Waardenburg syndrome Unilateral Xalatan use Oculodermal melanocytosis Incontinentia pigmenti Fuchs heterochromic iridocyclitis 5 …into their respective categories Heterochromia iridis : Divide these…

6. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal Siderosis Rb Congenital Horner’s Melanoma JXG Waardenburg syndrome Unilateral Xalatan use Oculodermal melanocytosis Incontinentia pigmenti Fuchs heterochromic iridocyclitis 6 …into their respective categories Heterochromia iridis : Divide these…

7. Siderosis Rb Congenital Horner’s Melanoma JXG Waardenburg syndrome Unilateral Xalatan use Oculodermal melanocytosis Incontinentia pigmenti Fuchs heterochromic iridocyclitis A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome DARKER iris abnormal: Siderosis Rb Melanoma LIGHTER iris abnormal DARKER iris abnormal 7 …into their respective categories Heterochromia iridis : Divide these…

8. Siderosis Rb Congenital Horner’s Melanoma JXG Waardenburg syndrome Unilateral Xalatan use Oculodermal melanocytosis Incontinentia pigmenti Fuchs heterochromic iridocyclitis A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculode LIGHTER iris abnormal DARKER iris abnormal 8 …into their respective categories Heterochromia iridis : Divide these…

9. Siderosis Rb Congenital Horner’s Melanoma JXG Waardenburg syndrome Unilateral Xalatan use Oculodermal melanocytosis Incontinentia pigmenti Fuchs heterochromic iridocyclitis A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome cyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 9 …into their respective categories Heterochromia iridis : Divide these…

10. Siderosis Rb Congenital Horner’s Melanoma JXG Waardenburg syndrome Unilateral Xalatan use Oculodermal melanocytosis Incontinentia pigmenti Fuchs heterochromic iridocyclitis A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fucyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 10 …into their respective categories Heterochromia iridis : Divide these…

11. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 11 …into their respective categories Heterochromia iridis : Divide these…

12. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal 12 …into their respective categories Heterochromia iridis : Divide these… DARKER iris abnormal What is the Horner syndrome triad? -- ? -- ? -- ?

13. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal 13 …into their respective categories Heterochromia iridis : Divide these… DARKER iris abnormal What is the Horner syndrome triad? --Ptosis --Miosis -- Anhydrosis

14. 14 Congenital Horner’s (note the ptosis and miosis in the lighter-colored eye)

15. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal What nonocular findings would suggest the presence of a congenital Horner’s? -- ’heterochromia nipplea ’ (ipsilateral areola lighter) -- fairer hair on the ipsilateral side of the head 15 …into their respective categories Heterochromia iridis : Divide these… DARKER iris abnormal

16. A/Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal What nonocular findings would suggest the presence of a congenital Horner’s? --’Heterochromia nipplea ’ (ipsilateral areola lighter) --Fairer hair on the ipsilateral side of the head 16 (The term is invented, but the finding is not!) …into their respective categories Heterochromia iridis : Divide these… DARKER iris abnormal ipsi - vs contralateral

17. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal What nonocular findings would suggest the presence of a congenital Horner’s? --’Heterochromia nipplea ’ (ipsilateral areola lighter) --Fairer hair on the ipsilateral side of the head 17 (The term is invented, but the finding is not!) …into their respective categories Heterochromia iridis : Divide these… DARKER iris abnormal

18. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal What nonocular findings would suggest the presence of a congenital Horner’s? --’Heterochromia nipplea ’ (ipsilateral areola lighter) --Fairer hair on the ipsilateral side of the head 18 …into their respective categories Heterochromia iridis : Divide these… DARKER iris abnormal In addition to being fairer, if the child has naturally curly hair, the hair on that side will be noticeably less curly more vs less

19. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal What nonocular findings would suggest the presence of a congenital Horner’s? --’Heterochromia nipplea ’ (ipsilateral areola lighter) --Fairer hair on the ipsilateral side of the head 19 …into their respective categories Heterochromia iridis : Divide these… DARKER iris abnormal In addition to being fairer, if the child has naturally curly hair, the hair on that side will be noticeably less curly

20. 20 Right congenital Horner’s (note the straighter hair on the right side)

21. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 21 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

22. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 22 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

23. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 23 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX—what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma --Adult-onset asthma with periocular xanthogranuloma -- Erdheim -Chester disease

24. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 24 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX—what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma --Adult-onset asthma with periocular xanthogranuloma -- Erdheim -Chester disease

25. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 25 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX—what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma --Adult-onset asthma with periocular xanthogranuloma -- Erdheim -Chester disease

26. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 26 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX—what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma --Adult-onset asthma with periocular xanthogranuloma -- Erdheim -Chester disease

27. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 27 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? -- ? -- ? -- ? -- ? #

28. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 28 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? -- ? -- ? -- ? -- ?

29. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 29 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? -- ? -- ? -- ? -- ? (Hints forthcoming)

30. Q/A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 30 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? -- ? -- ? -- ? -- ? This one’s name is rather on-the-nose

31. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 31 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? --Adult-onset xanthogranuloma -- ? -- ? -- ?

32. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 32 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma -- ? -- ? creepy word

33. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 33 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma -- ? -- ?

34. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 34 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma --Adult-onset asthma with periocular xanthogranuloma -- ? [wheeze]

35. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 35 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma --Adult-onset asthma with periocular xanthogranuloma -- ?

36. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 36 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma --Adult-onset asthma with periocular xanthogranuloma -- Erdheim -Chester disease eponym-eponym

37. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 37 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX —what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma --Adult-onset asthma with periocular xanthogranuloma -- Erdheim -Chester disease

38. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 38 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years The modifier juvenile implies that adult-onset xanthogranuloma is a thing—is it? Indeed it is What is adult-onset xanthogranuloma known as? It’s known as ‘adult-onset xanthogranloma ’ (AOX) There are four main forms of AOX—what are they? --Adult-onset xanthogranuloma --Necrobiotic xanthogranuloma --Adult-onset asthma with periocular xanthogranuloma -- Erdheim -Chester disease For more on the AOXs, see slide-set K20

39. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 39 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

40. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 40 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

41. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 41 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… ? The presence of… ? At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

42. Q/A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 42 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of… ? At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years eponym

43. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 43 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of… ? At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

44. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 44 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years ‘adjective’

45. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 45 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

46. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 46 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it

47. Q/A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 47 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it cell type

48. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 48 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it

49. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 49 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it

50. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 50 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it

51. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 51 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it

52. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 52 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it

53. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 53 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it

54. 54 JXG: Touton giant cells

55. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 55 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it Histiocytes are also known as…? Macrophages Histiocytes derive from what type of cell? Monocytes What does derive mean here? How does a monocyte become a histiocyte ? Monocytes are found within the vasculature. When a monocyte leaves the circulation and settles down within tissue, it becomes ( ie , is re-classified) as a histiocyte.*

56. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 56 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it Histiocytes are also known as…? Macrophages Histiocytes derive from what type of cell? Monocytes What does derive mean here? How does a monocyte become a histiocyte ? Monocytes are found within the vasculature. When a monocyte leaves the circulation and settles down within tissue, it becomes ( ie , is re-classified) as a histiocyte.*

57. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 57 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it Histiocytes are also known as…? Macrophages Histiocytes derive from what type of cell? Monocytes What does derive mean here? How does a monocyte become a histiocyte ? Monocytes are found within the vasculature. When a monocyte leaves the circulation and settles down within tissue, it becomes ( ie , is re-classified) as a histiocyte.*

58. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 58 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it Histiocytes are also known as…? Macrophages Histiocytes derive from what type of cell? Monocytes What does derive mean here? How does a monocyte become a histiocyte ? Monocytes are found within the vasculature. When a monocyte leaves the circulation and settles down within tissue, it becomes ( ie , is re-classified) as a histiocyte.*

59. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 59 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it Histiocytes are also known as…? Macrophages Histiocytes derive from what type of cell? Monocytes What does derive mean here? How does a monocyte become a histiocyte ? Monocytes are found within the vasculature. When a monocyte leaves the circulation and settles down within tissue, it becomes ( ie , is re-classified) as a histiocyte.*

60. Q/A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 60 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it Histiocytes are also known as…? Macrophages Histiocytes derive from what type of cell? Monocytes What does derive mean here? How does a monocyte become a histiocyte ? Monocytes are found within the vasculature . When a monocyte leaves the circulation and settles down within tissue, it becomes ( ie , is re-classified) as a histiocyte.

61. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 61 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it Histiocytes are also known as…? Macrophages Histiocytes derive from what type of cell? Monocytes What does derive mean here? How does a monocyte become a histiocyte ? Monocytes are found within the vasculature . When a monocyte leaves the circulation and settles down within tissue, it becomes ( ie , is re-classified) as a histiocyte.

62. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 62 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years What is a giant cell ? It is an aggregate of hystiocytes . (The formal term for the aggregate is syncytium ). Put simply, it is a bunch of histiocytes that have glommed together. What is the histologic hallmark of a giant cell? It is multinucleated —the myriad nuclei of the involved histiocytes are all visible within it Histiocytes are also known as…? Macrophages Histiocytes derive from what type of cell? Monocytes What does derive mean here? How does a monocyte become a histiocyte ? Monocytes are found within the vasculature . When a monocyte leaves the circulation and settles down within tissue, it becomes ( ie , is re-classified) as a histiocyte.

63. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 63 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years ‘ Foamy macrophages ’? I thought they were ‘ lipid-laden histiocytes .’ What’s the deal? In this context, foamy and lipid laden are synonyms, as are macrophages and histiocytes . So, toh -MAY- toh toh -MAH- toh .

64. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 64 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years ‘ Foamy macrophages ’? I thought they were ‘ lipid-laden histiocytes .’ What’s the deal? In this context, foamy and lipid laden are synonyms, as are macrophages and histiocytes . So, toe-MAY-toe toe-MAH-toe.

65. 65 JXG: Foamy macrophages

66. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 66 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years Ae Touton giant cells and foamy macrophages present in the AOXs as well? Indeed they are

67. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 67 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of… Touton giant cells The presence of… 'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years Ae Touton giant cells and foamy macrophages present in the AOXs as well? Indeed they are

68. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 68 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

69. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 69 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

70. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 70 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

71. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 71 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

72. 72 JXG: Skin papules. The orangish color is classic

73. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 73 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

74. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 74 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

75. 75 JXG: Iris lesion

76. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 76 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? -- ? They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma -- ? They are in the DDx as a ‘masquerade syndrome’ in peds uveitis -- ? Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

77. Q/A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 77 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? -- ? They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma -- ? They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years duh (two words)

78. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 78 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? -- ? They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma -- ? They are in the DDx as a ‘masquerade syndrome’ in peds uveitis --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

79. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 79 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding , with subsequent hyphema and secondary glaucoma -- ? --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years two words

80. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 80 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding , with subsequent hyphema and secondary glaucoma -- ? --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

81. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 81 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma -- ? --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years bad thing #1 bad thing #2 (two words)

82. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 82 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma -- ? --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

83. 83 JXG: Spontaneous hyphema

84. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 84 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the peds uveitis DDx as a ‘masquerade syndrome’ --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years two words

85. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 85 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the peds uveitis DDx as a ‘masquerade syndrome’ --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

86. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 86 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the peds uveitis DDx as a ‘masquerade syndrome’ --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

87. Q/A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 87 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the peds uveitis DDx as a ‘masquerade syndrome’ --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

88. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 88 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the peds uveitis DDx as a ‘masquerade syndrome’ --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

89. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 89 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the peds uveitis DDx as a ‘masquerade syndrome’ --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

90. Q/A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 90 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the peds uveitis DDx as a ‘masquerade syndrome’ --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

91. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis LIGHTER iris abnormal DARKER iris abnormal 91 …into their respective categories Heterochromia iridis : Divide these… What does JXG stand for? Juvenile xanthogranuloma In three words, what sort of condition is it? It is a nonneoplastic histiocytic proliferation What are the two hallmarks of JXG histology? The presence of…Touton giant cells The presence of…'foamy' macrophages At what age does JXG present? The majority before age 1 year, and almost all by age 2 How does JXG usually present? (Hint: It’s not ophthalmic) As skin papules When iris JXG nodules are present, is it uni -, or bilaterally? Unilaterally In what three ways are the iris nodules clinically significant? --They are prone to spontaneous bleeding, with subsequent hyphema and secondary glaucoma --They are in the peds uveitis DDx as a ‘masquerade syndrome’ --If enough are present, they will cause heterochromia iridis Should they be removed surgically? Only if the glaucoma is uncontrollable What is the natural history of the disease? JXG is self-limited, usually resolving by age 5 years

92. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis (duh) -- ? Synophrys -- ? Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 92 …into their respective categories Heterochromia iridis : Divide these…

93. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis (duh) -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 93 …into their respective categories Heterochromia iridis : Divide these… (Note: Some pts have sectoral fundus pigmentation changes, so that would be a good answer too)

94. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 94 …into their respective categories Heterochromia iridis : Divide these… What is synophrys ? The formal medical term for a unibrow

95. A/Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 95 …into their respective categories Heterochromia iridis : Divide these… What is synophrys ? The formal medical term for a unibrow

96. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 96 …into their respective categories Heterochromia iridis : Divide these… What is synophrys ? The formal medical term for a unibrow

97. 97 Waardenburg syndrome: Synophrys

98. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 98 What is dystopia canthorum? Lateral displacement of the canthi (ie, telecanthus) PLUS laterally displaced lacrimal puncta How can you tell whether the puncta are too lateral? Draw an imaginary vertical line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such a line crosses their cornea [it won’t].) …into their respective categories Heterochromia iridis : Divide these…

99. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 99 What is dystopia canthorum? Lateral displacement of the canthi (ie, telecanthus) PLUS laterally displaced lacrimal puncta How can you tell whether the puncta are too lateral? Draw an imaginary vertical line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such a line crosses their cornea [it won’t].) …into their respective categories Heterochromia iridis : Divide these…

100. 100 Dystopia canthorum . Note the telecanthus , and laterally displaced lacrimal puncta (also, synophrys )

101. 101 Waardenburg syndrome: Heterochromia iridis, synophrys and dystopia canthorum

102. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 102 What is dystopia canthorum ? Lateral displacement of the canthi ( ie , telecanthus ) PLUS laterally displaced lacrimal puncta How on earth are you supposed to recognize that the puncta are too lateral? Draw an imaginary vertical line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such a line crosses their cornea [it won’t].) …into their respective categories Heterochromia iridis : Divide these…

103. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 103 What is dystopia canthorum ? Lateral displacement of the canthi ( ie , telecanthus ) PLUS laterally displaced lacrimal puncta How on earth are you supposed to recognize that the puncta are too lateral? Draw an imaginary vertical line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such a line crosses their cornea [it won’t].) …into their respective categories Heterochromia iridis : Divide these…

104. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 104 What is dystopia canthorum ? Lateral displacement of the canthi ( ie , telecanthus ) PLUS laterally displaced lacrimal puncta How on earth are you supposed to recognize that the puncta are too lateral? Draw an imaginary vertical line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such a line crosses their cornea [it won’t].) …into their respective categories Heterochromia iridis : Divide these… What is the difference between telecanthus and hypertelorism ? Telecanthus refers to an abnormally increased distance between the medial canthi , whereas hypertelorism refers to an abnormally increased distance between the medial orbital walls Which manifests as an increased interpupillary distance? Hypertelorism

105. A/Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 105 What is dystopia canthorum ? Lateral displacement of the canthi ( ie , telecanthus ) PLUS laterally displaced lacrimal puncta How on earth are you supposed to recognize that the puncta are too lateral? Draw an imaginary vertical line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such a line crosses their cornea [it won’t].) …into their respective categories Heterochromia iridis : Divide these… What is the difference between telecanthus and hypertelorism ? Telecanthus refers to an abnormally increased distance between the medial canthi , whereas hypertelorism refers to an abnormally increased distance between the medial orbital walls Which manifests as an increased interpupillary distance? Hypertelorism two words three words

106. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 106 What is dystopia canthorum ? Lateral displacement of the canthi ( ie , telecanthus ) PLUS laterally displaced lacrimal puncta How on earth are you supposed to recognize that the puncta are too lateral? Draw an imaginary vertical line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such a line crosses their cornea [it won’t].) …into their respective categories Heterochromia iridis : Divide these… What is the difference between telecanthus and hypertelorism ? Telecanthus refers to an abnormally increased distance between the medial canthi , whereas hypertelorism refers to an abnormally increased distance between the medial orbital walls Which manifests as an increased interpupillary distance? Hypertelorism

107. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 107 What is dystopia canthorum ? Lateral displacement of the canthi ( ie , telecanthus ) PLUS laterally displaced lacrimal puncta How on earth are you supposed to recognize that the puncta are too lateral? Draw an imaginary vertical line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such a line crosses their cornea [it won’t].) …into their respective categories Heterochromia iridis : Divide these… What is the difference between telecanthus and hypertelorism ? Telecanthus refers to an abnormally increased distance between the medial canthi , whereas hypertelorism refers to an abnormally increased distance between the medial orbital walls Which manifests as an increased interpupillary distance? Hypertelorism

108. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What nonophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 108 What is dystopia canthorum ? Lateral displacement of the canthi ( ie , telecanthus ) PLUS laterally displaced lacrimal puncta How on earth are you supposed to recognize that the puncta are too lateral? Draw an imaginary vertical line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such a line crosses their cornea [it won’t].) …into their respective categories Heterochromia iridis : Divide these… What is the difference between telecanthus and hypertelorism ? Telecanthus refers to an abnormally increased distance between the medial canthi , whereas hypertelorism refers to an abnormally increased distance between the medial orbital walls Which manifests as an increased interpupillary distance? Hypertelorism

109. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 109 …into their respective categories Heterochromia iridis : Divide these…

110. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 110 aardenburg syndrome W hite forelock …into their respective categories Heterochromia iridis : Divide these…

111. 111 Waardenburg syndrome: White forelock

112. 112 Note that Waardenburg syndrome has forms that do not involve heterochromia

113. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 113 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- ? -- ? -- ? --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these…

114. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 114 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these…

115. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 115 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What is the noneponymous name for Hirschprung’s disease? Congenital megacolon Briefly, what is the pathogenesis and problem? A failure of neural-crest migration leaves a portion of the colon uninnervated and thus nonfunctional. This is a setup for obstruction at that segment.

116. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 116 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What is the noneponymous name for Hirschprung’s disease? Congenital megacolon Briefly, what is the pathogenesis and problem? A failure of neural-crest migration leaves a portion of the colon uninnervated and thus nonfunctional. This is a setup for obstruction at that segment.

117. Q LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 117 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What is the noneponymous name for Hirschprung’s disease? Congenital megacolon Briefly, what is the pathogenesis and problem? A failure of neural-crest migration leaves a portion of the colon uninnervated and thus nonfunctional. This is a setup for obstruction at that segment.

118. A LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 118 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What is the noneponymous name for Hirschprung’s disease? Congenital megacolon Briefly, what is the pathogenesis and problem? A failure of neural-crest migration leaves a portion of the colon uninnervated and thus nonfunctional. This is a setup for obstruction at that segment.

119. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? -- Heterochromia iridis -- Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 119 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness -- Depigmented patches of skin --(There are a number of others as well) Note that depigmentation ( ie , of the iris , the skin , the hair , the RPE and choroid ) is a dominant and recurring theme in Waardenburg syndrome (Some pts have sectoral fundus pigmentation changes) …into their respective categories Heterochromia iridis : Divide these…

120. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 120 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) And now, a disclaimer: Waardenburg syndrome is actually a more complex condition than is being presented here. It has four types, two of which each have 2 subtypes. Not all forms of Waardenburg syndrome include all of the features mentioned here . That said, after reviewing every mention of the condition in the BCSC books, the info presented in this slide-set is what I think a resident is expected to know about the condition. Still, caveat emptor. …into their respective categories Heterochromia iridis : Divide these…

121. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis -- Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock ( ie , an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 121 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) And now, a disclaimer: Waardenburg syndrome is actually a more complex condition than is being presented here. It has four types, two of which each have 2 subtypes. Not all forms of Waardenburg syndrome include all of the features mentioned here . That said, after reviewing every mention of the condition in the BCSC books, the info presented in this slide-set is what I think a resident is expected to know about the condition. Still, caveat emptor. …into their respective categories Heterochromia iridis : Divide these… In some forms of Waardenburg syndrome, heterochromia is absent, with light irides present bilaterally

122. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 122 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 Q

123. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 123 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 A

124. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 124 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2, PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” Q

125. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 125 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2, PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” A

126. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 126 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2, PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” Q

127. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 127 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2, PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” A

128. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 128 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2, PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” Q

129. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 129 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2, PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” A

130. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 130 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2 , PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” ? ? Q

131. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 131 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2, PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” A

132. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 132 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2, PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” Q

133. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 133 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2, PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” A

134. LIGHTER iris abnormal: Congenital Horner’s JXG Waardenburg syndrome Incontinentia pigmenti Fuchs heterochromic iridocyclitis DARKER iris abnormal: Siderosis Rb Melanoma Unilateral Xalatan use Oculodermal melanocytosis What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) LIGHTER iris abnormal DARKER iris abnormal 134 What are some of the other non-ophthalmic manifestations of Waardenburg syndrome? -- Hirschprung’s disease --Deafness --Depigmented patches of skin --(There are a number of others as well) …into their respective categories Heterochromia iridis : Divide these… What gene is responsible for Waardenburg syndrome? PAX3 In the present context, what is the origin of the word PAX , ie , where does it come from? It is a portmanteau of the terms ‘ PA ired homeobo X ’ and/or ‘ PA ired bo X ’ In two words, what is the role of the proteins coded for by PAX genes? They are transcription factors In one word, what are PAX genes involved in? Morphogenesis What are the three PAX genes of concern to us eye dentists? PAX2, PAX3, and PAX6 Of these three PAX genes, which is most important to the development of the eye? PAX6 . The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.” For more on PAX genes, see slide-set FELT4