Corneal Dystrophy

corneal dystrophy

1. Corneal Dystrophies BY.DR.GAYATHRI JAGADESH (2 nd yr ophthal Pg) MODERATOR:DR.SWATHI .N(Professor)

2. Corneal Dystrophies H eterogenous group of non-inflammatory hereditary corneal disorders ; bilateral, non-vascularized corneal opacities N o systemic associations Corneal dystrophies should be suspected when transparency is lost or corneal opacities occur spontaneously, particularly in both corneas, and especially in the presence of positive family history .

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4. The ICBD (International Committee for classification of corneal dystrophies) (2015) Epithelial and subepithelial dystrophies Epithelial basement membrane dystrophy (mostly degenerative, rarely C1) Epithelial recurrent erosion dystrophy Franceschetti corneal dystrophy Dystrophia Smolandiensis Dystrophia Helsinglandica Subepithelial mucinous corneal dystrophy Meesmann corneal dystrophy Lisch epithelial corneal dystrophy Gelatinous drop-like corneal dystrophy Epithelial- stromal TGFB1 dystrophies Reis-Bucklers corneal dystrophy Thiel-Behnke corneal dystrophy Lattice corneal dystrophy Granular corneal dystrophy Stromal dystrophies Macular corneal dystrophy Schnyder corneal dystrophy Congenital stromal corneal dystrophy Fl e ck corneal dystrophy Posterior amorphous corneal dystrophy Central cloudy dystrophy of Francois Pre- descemet corneal dystrophy Endothelial dystrophies Fuchs endothelial corneal dystrophy Posterior polymorphous corneal dystrophy Congenital hereditary endothelial dystrophy X-linked endothelial corneal dystrophy

5. Epithelial and Subepithelial dystrophies Involve the anterior most layer of the cornea Generally present in adults who may be asymptomatic or suffer from bouts of recurrent corneal erosions associated with pain, lacrimation and blurring of vision with a varying extent of corneal haziness

6. Epithelial Basement membrane dystrophy (Cogan dystrophy) [Map dot finger print dystrophy, anterior basement membrane dystrophy, dystrophic recurrent erosion] Most commonly encountered anterior corneal dystrophy Characterised by recurrent corneal erosions Onset : usually present in adult life Symptoms May be asymptomatic Recurrent erosions with pain, lacrimation and blurred vision Irregular astigmatism Monocular diplopia Signs Best visualize by retroillumination or scleral scatter Maps: Grey geographical patches Dots(Cogan): irregular , round or comma shaped grey white intraepithelial opacities Blebs of Bron and Brown: small clear round dots in a pebbled glass pattern Finger print lines: Parallel, Curvilinear, refractile, branching lines with club shape terminations Recent erosions occur due to lack of hemidesmosomal connections between epithelial cells

7. Management: Corneal scraping debridement followed by a soft contact lens for 24-48 hours and topical antibiotics and lubricants Conservative therapy with hypertonic sodium chloride It acts by dehydrating the epithelium allowing it to adhere better Lubricating eyedrops Stromal puncture 23-25 gauge needle Anterior stromal puncture by Nd:YAG Phototherapeutic Keratectomy Excimer laser with low pulse energy and low number of pulses [Shallow ablations with mean ablation depth of 46 microns have been recommended for decreased complications]

8. Epithelial recurrent erosion dystrophy (Franceschetti) [Smolandiensis, Helsinglandica] Symptoms : Onset is usually in the first decade of life Redness, photophobia, epiphora, ocular pain Recurrent attacks precipitated by exposure to sunlight, dust, smoke and lack of sleep Increased sensitivity of eyes Attacks decline by fourth and fifth decades and cease by 50 years Signs Recurrent corneal erosions spontaneously or after minimal trauma Diffuse, central, subepithelial opacification with subepithelial fibrosis Central corneal keloid like opacities seen in Smolandiensis variant Management Keratoplasty Recurrence after approximately 15 months

9. Subepithelial mucinous corneal dystrophy Symptoms : Onset is by frequent recurrent corneal erosions in the first decade. Subside during adolescence with formation of subepithelial opacities Signs : Bilateral, homogenous subepithelial haze (dense centrally and fades peripherally) Management : Management of recurrent corneal erosions Phototherapeutic keratectomy is a potential treatment modality

10. Meesmann corneal dystrophy [Juvenile Hereditary ED; Stocker-Holt] It is a rare non progressive abnormality of corneal epithelial metabolism. Bilateral, diffuse involving accumulation of intracytoplasmic debris in the corneal epithelium with the formation of epithelial cysts Symptoms : Onset : early childhood [12 months of age : clinical signs] Usually asymptomatic till 4 th or 5 th decade Mild visual reduction, glare, light sensitivity or painful recurrent epithelial erosions Blurred vision Signs: Tiny intraepithelial cysts of uniform size but variable density is maximal centrally and extend towards limbus Cornea may be slightly thinned and sensation reduced Treatment Ocular lubricants Therapeutic contact lenses Rx for corneal erosions in severe cases

11. Lisch epithelial Corneal dystrophy Band-shaped and whorled microcytic dystrophy of corneal epithelium Symptoms: Onset : childhood Slowly progressive Usually asymptomatic Blurred vision if the pupillary zone is involved Signs: Localized grey opacities of varying patterns (whorl like, radial, band shaped, flame or feathery, club shaped) Intraepithelial multiple, densely crowded microcysts with clear surrounding epithelium Management Corneal scrapings Wearing contact lenses

12. Gelatinous drop like corneal dystrophy [subepithelial amyloidosis, primary familial amyloidosis] Symptoms Onset : 1 st -2 nd decade Decreased vision, photophobia, irritation, redness and lacrimation Signs Clusters of small multiple nodules and acquire a mulberry configuration Stromal opacification or larger kumquat like lesions in advanced stages Hyperpermeability of corneal epithelium [late staining of Fluorescein] Superficial vascularization Management Surgical management may be required for visual rehabilitation Superficial Keratectomy Corneal transplant procedures like lamellar keratoplasty or penetrating keratoplasty Recurrence is common [usually after 5 years] Phototherapeutic keratectomy is useful for corneal opacities that recur after lamellar grafts

13. Epithelial stromal TGFB1 dystrophies These dystrophies result from mutations in TGFB1 gene encoding keratoepithelin which binds to type I, II and IV collagens Mutation of the gene acts by inhibiting cell adhesion

14. Reis Bucklers Corneal Dystrophy It primarily involves the Bowman’s layer with secondary alterations in the epithelium and the stroma Symptoms: Onset: first decade of life Recurrent corneal erosions Pain, redness, tearing and visual impairment Becomes less severe after second decade Slowly progressive deterioration of vision owing to diffuse opacification is seen Signs: Irregular coarse geographic opacities at Bowman’s layer and superficial stroma Generalised replacement of Bowman’s layer by irregular collagen fibres Corneal sensations are decreased Management Conservative treatment of recurrent corneal erosions Excimer keratectomy Adjunctive application of topical mitomycin-C 0.02% helps in reducing recurrence Corneal electrolysis for subepithelial opacities in RBCD Keratoplasty in severe cases

15. Thiel-Behnke Corneal dystrophy Symptoms Slow progressive deterioration of vision that begin in childhood Pain, redness, tearing due to recurrent erosions Signs Subepithelial reticular honeycomb like opacities, sparing the peripheral cornea in early stages, however opacities progress to deep stromal layers and corneal periphery in advanced cases Corneal sensations are typically normal

16. Lattice corneal dystrophy (Biber-Haab-Dimmer) Symptoms: Onset : 1 st to 2 nd decade of life Ocular discomfort and pain due to recurrent corneal erosions Progressive visual impairment significant around 4 th decade Signs: Central superficial flock like opacities Refractile anterior stromal dots coalescing into a relatively fine filamentous lattice that spread gradually but spares the periphery Generalized stromal haze which may progressively impair vision Corneal sensation is reduced Treatment : Penetrating or deep lamellar keratoplasty; recurrence is common

17. Familial Amyloidosis [Finnish or Meretoja type] [Gelsolin type LCD] Systemic condition Symptoms: Onset after 20 years Ocular irritation, late impairment of vision (6 th decade) Erosions are rare Bilateral involvement Signs Sparse stromal lattice lines spread centrally from the periphery Corneal sensation is impaired Systemic features Progressive cranial and peripheral neuropathy Mask like facies and autonomic features Dysarthria Dry and extremely lax itchy skin Protruding lips with impaired movement Pendulous ears Blepharochalasis Management: Treatment of recurrent epithelial erosions Amniotic membrane transplantation may be done for persistent epithelial defects Phototherapeutic keratectomy Corneal transplant (keratoplasty) in cases with visually significant epithelial scarring and corneal haze Recurrence common

18. Granular corneal dystrophy type 1 GCD type 1 [Corneal dystrophy Groenouw type 1] Symptoms: Onset in 1 st decade Glare and photophobia Visual acuity decreases as opacification progresses with age Recurrent erosions are unknown Signs: Discrete white central anterior stromal deposits Gradual increase in number and size of deposits with deeper and outward spread sparing the limbus Corneal sensation is impaired Management: Penetrating or deep lamellar keratoplasty Superficial recurrences may require repeated excimer laser keratectomy

19. Granular corneal dystrophy type 2 Symptoms: Onset in 1 st to 2 nd decade Mild recurrent corneal erosions Visual impairment is a late feature Signs Fine superficial opacities progress to form stellate or annular lesions, sometimes associated with deeper linear opacities Management: femtosecond assisted lamellar keratoplasty Corneal trauma accelerates progression Refractive surgery is contraindicated

20. Stromal dystrophies

21. Macular corneal dystrophy [Groenouw corneal dystrophy type II, Fehr speckled dystrophy] Symptoms Onset: childhood Slowly progressive course Recurrent corneal erosions are common Reduced corneal sensitivity Visual impairment occur early Signs: Dense but poorly delineated greyish-white spots centrally in the anterior stroma and peripherally in the posterior stroma Opacities are elevated Progression of lesions occur in conjunction with anterior stromal haze initially involving the central cornea.Eventual involvement of full thickness stroma, extending to the limbus with no clear zone. Thinning of cornea in early stage, with late thickening due to stromal imbibition of water from endothelial decompensation In advanced stage, Descemet membrane develop guttate excrescences Corneal sensations are reduced Management : Penetrating keratoplasty; Recurrence is common

22. Schnyder (crystalline) corneal dystrophy Disorder of the corneal lipid metabolism often associated with syndromic dyslipidemia Symptoms: glare; visual impairment Signs: Central haze progressing to more widespread full thickness involvement Subepithelial crystalline opacities in 50% cases. Prominent corneal arcus gradually progressing centrally leading to diffuse haze Treatment: Excimer keratectomy; Corneal transplantation

23. Central cloudy dystrophy of francois : Polygonal grey opacities Resemble crocodile shagreen.

24. Fleck corneal dystrophy Symptoms Congenital or occurs in the first few years of life Non progressive Mostly asymptomatic with mild photophobia in some cases Signs Multiple symmetric minute opacities in the stroma Corneal sensation is usually normal Management : does not require treatment

25. Congenital stromal corneal dystrophy Symptoms Rare, congenital, non-progressive or slowly progressive Moderate to severe visual loss Strabismus and glaucoma association seen in some patients Corneal erosions, photophobia and corneal vascularization are absent Signs Bilateral opaque flaky or feathery areas of clouding in the stroma [multiply with age and eventually preclude visibility of the endothelium] Corneal stromal thickness increased Management Keratoplasty in cases of visually disabling opacities

26. Posterior amorphous corneal dystrophy Symptoms: Onset in the 1 st decade Visual acuity is minimally impaired Signs: Irregular, amorphous sheet like opacities in posterior corneal stroma and Descemet’s membrane with transparent corneal stroma between opacities Non corneal manifestations including irido-corneal adhesions, corectopia and pseudopolycoria Management Conservative management with refractive correction Keratoplasty may be required in few cases

27. Pre-Descemet Corneal dystrophy Symptoms Onset: usually after 30 years of age (sometimes in first decade of life) Usually asymptomatic Vision usually unaffected Signs Focal, fine, polymorphic gray opacities in the deep stroma

28. Endothelial dystrophies

29. Fuchs endothelial corneal dystrophy Characterised by bilateral accelerated endothelial cell loss and progressive deterioration of vision Onset: 4 th decade or later; most commonly affects female Symptoms Blurring particularly in the morning due to corneal oedema Progressive visual loss Pain, foreign body sensation, photophobia Signs Stage 1 (Stage of cornea guttata) S tage 2 (Stage of endothelial decompensation) Stage 3 (Stage of bullous keratopathy) Stage 4 (Stage of scarring)

30. Management: Dehydrating agents for early oedematous stage Anti-glaucoma agents in cases with concomitant glaucoma Supportive treatment for ruptured bullae Topical Rho-kinase inhibitor with prior transcorneal endothelial Keratoplasty: corneal transplant is the definitive treatment for advanced cases of FCD Penetrating keratoplasty Endothelial keratoplasty (DSAEK) (Descemet’s stripping automated) Cataract surgery may be required in many FCD

31. Posterior Polymorphous Corneal dystrophy Dystrophic endothelial cells acquire epithelial characteristics leading to secondary abnormalities in the Descemet’s membrane Symptoms: Onset is usually in childhood Mostly asymptomatic, non-progressive or slowly progressive Vision loss may also be secondary to irido-corneal adhesions and glaucoma Signs: Subtle vesicular, band-like or diffuse endothelial lesions Non-keratoconic corneal steepening Peripheral iridocorneal adhesions (25% cases) Elevated IOP (15%) cases Lipid deposition or band keratopathy in advanced cases Management Most cases are asymptomatic and may not require treatment Corneal transplantation may be required in severe cases

32. Congenital hereditary endothelial dystrophy (Maumenee CD) Rare dystrophy with focal or diffuse thickening of Descemet membrane and endothelial degeneration Symptoms Onset at birth Bilateral asymmetric involvement Stationary to slow progressive course Diffuse corneal clouding along with history suggestive of photophobia (by parents) Inability to fixate on objects and involuntary eye movements Signs Corneal clouding and thickening are neonatal in CHED2 and develop during the first year or two in CHED1 Visual impairment is variable Nystagmus is common in CHED2 Long standing cases may display band keratopathy and subepithelial amyloidosis Management Corneal transplantation

33. X-linked endothelial corneal dystrophy Symptoms Females are asymptomatic Males complain of clouding of cornea from birth with slowly progressive blurred vision Signs In females, moon-crater like endothelial changes are the only clinical findings In males Congenital clouding Milky appearance Moon crater like endothelial changes along with secondary subepithelial band keratopathy Nystagmus is often associated Management Early cases: refractive correction and medical management Advanced cases: corneal transplantation

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