cornealdystrophies-150324080331-conversion-gate01.pptx

cornealdystrophies

1. Corneal Dystrophies Presenter- Dr.Puneet Sharma

2. Corneal dystrophies are group of progressive, usually bilateral, mostly genetically determined, non-inflammatory opacifying disorders. Definition

3. Epithelial Bowman layer Stromal Endothelial Classification

4. Corneal dystrophies They are usually inherited . They affect the right and left eyes equally . They are not caused by other factors, such as injury or diet. Most progress gradually. U sually begin in one of the five corneal layers and may later spread to nearby layers . Most do not affect other parts of the body , nor are they related to diseases affecting other parts of the eye or body . Most can occur in healthy individual Corneal dystrophies v/s degenerations

5. Cogan epithelial basement membrane dystrophy Inheritance- sporadic & rarely AD with incomplete penetrance Histology- thickening of basement membrane with deposition of fibrillary protein b/w basement membrane & bowman’s layer . Absence of hemidesmosomes of basal epithelial cells which is responsible for recurrent corneal erosions . Epithelial Dystrophies

6. Deposition of fibrillary protein b/w basement membrane & bowman’s layer

7. Onset 2 nd decade. 10% of pts develop recurrent corneal erosions in 3 rd decade & others remain asymptomatic throughout life. Signs- Dot like opacities Epithelial microcysts Subepithelial map-like patterns surrounded by a faint haze Whorled fingerprint - like lines Similar features can be seen in an eye suffering recurrent erosions from any cause

8. Dot like opacities, Epithelial microcysts , map-like patterns, Whorled fingerprint - like lines

9. Very rare, non-progressive abnormality of corneal epithelial metabolism , underlying which mutations in the gene encoding corneal epithelial keratins have been reported. Inheritance is AD Histology- irregular thickening of the epithelial basement membrane & intraepithelial cysts Meesmann epithelial dystrophy

10. Irregular thickening of the epithelial basement membrane & intraepithelial cysts

11. Symptoms are variable. Pts may be asymptomatic or ocular irritation may begin in the first few mnths of life . Signs Myraid tiny intraepithelial cysts of uniform size but variable density are maximal centrally & extend towards but do not reach the limbus Cornea may be slightly thinned & sensation reduced. Treatment- lubricants

12. Myraid tiny intraepithelial cysts of uniform size

13. Previously thought to be a variant of meesmann , now believed to be genetically distinct . Inheritance is AD or X- linked dominant with gene locus on Xp22.3 in the later in at least some patients. Signs Grey bands with a whorled configuration Retroillumination shows densely packed microcysts Lisch epithelial dystrophy

14. Grey bands with a whorled configuration, densely packed microcysts

15. Reis- Bucklers dystrophy categorized as form of granular stromal dystrophy Inheritance is AD with gene locus on 5q31 (gene TGFB1) Histology shows replacement of Bowman layer & epithelial basement membrane with fibrous tissue Bowman layer/ anterior stromal dystrophies

16. Replacement of Bowman layer & epithelial basement membrane with fibrous tissue

17. Onset is in 1 st or 2 nd decade with severe recurrent corneal erosions. Signs Grey-white, fine, round & polygonal subepithelial opacities similar to those of granular dystrophy type 1, most dense centrally. Changes increase in density with age resulting in a reticular pattern due to the laying down of irregular bands of collagen replacing Bowman layer.

18. Grey-white, fine, round & polygonal subepithelial opacities

19. Corneal sensation is reduced & visual impairment may occur due to scarring at level of Bowman layer . Treatment is directed at recurrent erosions. Excimer laser Keratectomy achieves satisfactory control in some pts.

20. Inheritance is AD with gene locus on 10q24 & 5q31(geneTGFB1) Histology shows curly fibres in Bowman layer on electron microscopy Onset is at end of 1 st decade with recurrent erosions Thiel-behnke dystrophy

21. Signs subepithelial opacities in a honeycomb morphology involving central cornea Treatment not required as visual impairment is less than Reiss- Bucklers dystrophy

22. Curly fibres in Bowman layer, Honeycomb morphology involving central cornea

23. Disorder of corneal lipid metabolism associated with raised serum cholesterol in approx 50% pts Inheritance is AD with gene locus at 1q36 Schnyder central crystalline dystrophy

24. Signs Central, oval, subepithelial crystalline opacity Diffuse corneal haze & prominent corneal arcus develop by 3 rd decade Treatment by excimer laser Keratectomy

25. Central, oval, subepithelial crystalline opacity

26. Lattice corneal dystrophy Inheritance is AD with locus at 5q31 (gene TGFB1) Histology shows amyloid , staining with congo red & exhibiting characteristic green birefringence when viewed with a polarizing filter Stromal dystrophies

27. Onset is at end of 1 st decade with recurrent erosions which precede typical stromal changes Signs Anterior stromal , glassy, refractile dots Coalescence into fine lattice lines , best seen on retroillumination Deep & outward spread sparing the periphery

28. Anterior stromal , glassy, refractile dots, Coalescence into fine lattice lines, Deep & outward spread

29. Generalized stromal haze that progressively impairs vision & may obscure some of the lattice lines Corneal sensation is reduced Treatment by penetrating or deep lamellar keratoplasty is frequently required. Recurrence in graft may occur.

30. Inheritance is AD with a gene locus at 9q34 Histology shows amyloid deposits in corneal stroma & other involved sites Lattice corneal dystrophy type 2

31. A myloid deposits in corneal stroma ( congo red stain)

32. Onset in 2 nd decade , erosions are rare Signs Randomly scattered, short, fine lattice lines which are sparse, more delicate, more rapidly oriented & more peripherally located than in LCD1 Corneal sensation is impaired

33. Treatment by keratoplasty may rarely be required in later life to improve vision Systemic features Progressive bilateral cranial & peripheral neuropathy Dysarthria Mask like facial expression due to bilateral facial palsy Protruding lips & pendulous ears Dry & extremely lax itchy skin

34. Thick rope like bands of deposited amyloid Age of onset is late 70-90 yrs Inhertance AD (gene TGFB1) Lattice corneal dystrophy type 3

35. Lattice corneal dystrophy type 3

36. Rare disorder mainly affecting japanese patients Inheritance is AR with gene locus at 1q32 Gelatinous drop like dystrophy

37. Histology shows subepithelial & anterior stromal accumulation of amyloid Onset is within 1 st & 2 nd decades with severe photophobia, watering & visual impairement

38. subepithelial & anterior stromal accumulation of amyloid

39. Signs Grey subepithelial nodules Gradual confluence, stromal involvement & increase in size giving rise to a mulberry like appearance Treatment is with repeated superficial keratectomy because of early recurrences on corneal grafts

40. Grey subepithelial nodules, mulberry like appearance

41. Inheritance is AD with gene locus at 5q31 Histology shows amorphous hyaline deposits which stain bright red with masson trichrome Onset is in 1 st decade but vision is usually not affected in early stage of disease Granular corneal dystrophy type 1

42. Signs Small, white, sharply demarcated deposits resembling crumbs, sugar granules, rings or snowflakes in central anterior stroma Overall pattern of deposition is radial or disc shaped or may be in the form of a christmas tree Initially the stroma b/w the opacities is clear

43. Amorphous hyaline deposits which stain bright red with masson trichrome , radial or disc shaped or may be in the form of a christmas tree

44. Gradual increase in number & size of deposits with deeper & outward spread but not reaching the limbus Gradual confluence & diffuse haze of intervening stroma causes visual impairement Corneal sensation is impaired Treatment by penetrating or deep lamellar keratopasty is usually required by 5 th decade. Superficial recurrences may require repeated excimer laser keratectomy

45. Inheritance is AD with gene locus at 5q31 (gene TGFB1) Histology shows both hyaline & amyloid in stroma that stains with M asson trichrome & congo red Onset is in 2 nd decade. Reccurent erosions are rare & if present, mild Granular corneal dystrophy type 2

46. Signs Superficial, fine, opacities that resemble rings, discs, stars or snowflakes , most centrally resembling those in granular dystrophy type 1 associated with deeper linear opacities reminiscent of lattice dystrophy Treatment not required

47. Superficial, fine, opacities that resemble rings, discs, stars or snowflakes, most centrally, deeper linear opacities reminiscent of lattice dystrophy

48. Least common stromal dystrophy in which a systemic inborn error of keratin sulphate metabolism seems to have only corneal manifestations Divided in type 1, 1A & 2 depending on the presence or absence of antigenic keratan sulphate in the serum & cornea , these have been shown to be due to mutations in same sulphotransferase gene (CHST6) Macular dystrophy

49. Inheritance is AR with gene locus at 16q22 Histology shows abnormally close packing at collagen in corneal lamellae & abnormal aggregations of GAG which stain with prussian blue & colloidal iron Onset is toward end of 1 st decade with visual deterioration

50. Signs Anterior stromal haze involving central cornea Greyish - white, dense, focal, poorly delineated spots in anterior stroma centrally & posterior stroma in the periphery Superficial deposits may produce an irregularity of the corneal surface , although recurrent erosions are unusual

51. Close packing at collagen in corneal lamellae & abnormal aggregations of GAG, Anterior stromal haze involving central cornea, Greyish - white, dense, focal, poorly delineated spots in anterior stroma centrally & posterior stroma in the periphery

52. Increase in size & stromal haze Increasing opacification with eventual involvement of full-thickness stroma up to the limbus , associated with corneal thinning Treatment by penetrating keratoplasty is successful but late recurrences on the graft may occur

53. Inheritance is AD Signs Polygonal, cloudy grey opacities separated by relatively clear spaces, in the posterior stroma most prominent centrally , creating a leather-like appearance The signs are similar to posterior crocodile shagreen but it is differentiated by its central, posterior location & mode of inheritance Treatment not required Francois central cloudy dystrophy

54. Fuchs endothelial dystrophy Bilateral accelerated endothelial cell loss More common in women Associated with slight increased prevalence of open angle glaucoma Endothelial dystrophies

55. Inheritance AD although majority are sporadic Onset slowly progressive disease is commonly in old age, although earlier onset can occur Signs Cornea guttata refers to irregular warts or excrescences of D escemet membrane secreted by abnormal endothelial cells

56. Specular reflection shows tiny dark spots caused by disruption of regular endothelial mosaic Progression occurs to a beaten metal appearance which may be associated with melanin deposition Endothelial decompensation gradually leads to central stromal oedema & blurred vision, worse in the morning & clearing later in the day

57. Cornea guttata , beaten metal appearance, bullous keratopathy,Persistent epithelial oedema

58. Epithelial oedema develops when stromal thickening has increased by about 30% Persistent epithelial oedema results in the formation of microcysts & bullae ( bullous keratopathy ) which causes pain & discomfort on rupture, thought to be due to exposure of naked nerve endings

59. Treatment Topical sodium chloride 5% drops or ointment, reduction in IOP Bandage contact lens Penetrating or deep lamellar keratoplasty Other options- conjunctival flaps & amniotic membrane transplants Cataract surgery may accelerate endothelial cell loss, a triple procedure (cataract surgery, lens implantation & keratoplasty ) may be considered in eyes with corneal epithelial oedema .

60. Rare, innocuous & asymptomatic condition in which corneal endothelial cells display characteristics similar to epithelium. Inheritance AD Onset is at birth or soon thereafter , although it is most frequently identified by chance in later life Posterior polymorphous dystrophy

61. Signs Subtle vesicular endothelial lesions that may become confluent band-like lesions or diffuse opacities which may be asymmetrical Ocular associations Iris abnormalities Glaucoma Alport syndrome Treatment not required

62. C onfluent band-like lesions or diffuse opacities which may be asymmetrical

63. Rare dystrophy in which there is focal or generalized absence of corneal endothelium 2 main forms CHED1 & CHED2, later being more severe Inheritance CHED1 is AD with the gene locus on 20p11.2-q11.2 . CHED2 is AR with the gene locus on 20p13 Congenital hereditary endothelial dystrophy

64. Onset is perinatal Signs Bilateral, symmetrical, diffuse corneal oedema resulting in a blue-grey, ground-glass appearance to total opacification Visual impairment is variable & visual acuity may surpass than expected from corneal appearance

65. Congenital hereditary endothelial dystrophy

66. Treatment by penetrating keratoplasty has a reasonable chance of success when performed early but is risky & more difficult than in adults . Undue delay carries risk of dense amblyopia D/D Congenital glaucoma Birth trauma Rubella keratitis Sclerocornea mucopolysaccharidoses