Corneal dystrophies
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Corneal dystrophies are a group of inherited bilateral corneal disorders characterized by the deposition of abnormal materials in the cornea that can cause progressive loss of vision. They are classified based on the layer of the cornea involved - epithelial, stromal, or endothelial dystrophies. Precise examination, genetic testing, and molecular analysis are important for establishing an accurate diagnosis and guiding treatment and management of these progressive conditions.
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Corneal dystrophies
- 2. CORNEA - ANATOMY • Tear film 7-11 um • Epithelium 50 um • Epithelial BM <128 nm • Bowman 8-14 um • Stroma 500 um • Descemet 5-10 um • Endothelium 5 um
- 3. DYSTROPHY - Definition • Greek Dys – wrong; Trophe – nourishment • Bilateral • Symmetric • Inherited condition • Little or no relationship to environmental or systemic factors • Begin in early life but may not become clinically apparent until later • Slowly progressive • Absence of inflammation
- 4. GOALS OF EXAMINATION • Make a diagnosis • Manage patients to maximize – Comfort – Vision
- 5. STEPS IN DIAGNOSIS • Structured Approach • Careful family history • Differentiate it from corneal degeneration • Recognise the pattern of the lesions “Genotypes need phenotypes” • Examine the depth of the lesions • Assess severity and stage of the dystrophy • Genetic analysis • HPE
- 6. SLIT-LAMP EVALUATION of CD Precise rules: • Examination of both eyes • Examination with dilated pupils – Direct and Retro illumination • Topographical determination of lesion – Superficial – Stromal – Endothelial – Combination • Characteristic opacity pattern in direct illumination • Characteristic opacity units in direct and indirect illumination • Pseudoinflammatory signs • CORNEA DIAGRAM
- 7. SLIT LAMP ILLUMINATION TECHNIQUES DIRECT FOCAL SCLEROTIC SCATTER INDIRECT ILLUINATION
- 8. OPTICAL SECTION OF CORNEA
- 9. CLASSIFICATION OF CD Anatomic classification: • Anterior corneal dystrophies : Epithelium and its basement membrane or Bowman layer and the superficial corneal stroma • Stromal corneal dystrophies: Stroma • Posterior corneal dystrophies: Descemet membrane and endothelium
- 10. IC3D CLASSIFICATION • Traditional classification • Genetic • Clinical • Pathologic information
- 12. EPITHELIAL DYSTROPHIES Epithelial basement membrane dystrophy Epithelial recurrent erosion dystrophy Subepithelial mucinous corneal dystrophy Meesmann corneal dystrophy Lisch epithelial corneal dystrophy Gelatinous drop-like corneal dystrophy
- 13. EPITHELIUM • 50 um non-keratinized stratified squamous epithelium • Central: 5-10 layers • Peripheral: 8-10 layers • Superficial layers - microvilli • Exfoliation: 5-7 days • Basal columnar cells - Hemi-desmosomes Epithelium ―HD― basement membrane -Bowman’s Layer
- 14. MEESMANN’S
- 15. • D/d: microcystic edema due to contact lens wear • Prognosis: good • When to treat? – Symptomatic (due to rupture of cysts) – Scarring after rupture • How to treat?
- 16. EPITHELIAL BASEMENT MEMBRANE DYSTROPHY (EBMD) • Thickened basement membrane • Abnormality of epithelial turnover, maturation, and production of BM and adhesion complexes
- 17. Morphology of lesions: MAPS - Geographic epithelial changes DOTS - opaque irregular opacities FINGERPRINTS - concentric irregular lines
- 19. • Recurrent corneal erosions • LASIK - absolute contraindication
- 20. How to manage EBMD patients? • Asymptomatic and mild: Regular follow-up • Recurrent corneal erosions: – Hypertonic saline ointment – Bandage contact lens – Epithelial debridement Persistent lesions – Anterior Stromal Puncture – PTK • Decreased visual function – PTK
- 21. GELATINOUS DROP-LIKE CORNEAL DYSTROPHY • Small multiple nodules – “mulberry “ • Deep lamellar keratoplasty • PTK -To remove corneal opacities that recur after lamellar grafts
- 22. BOWMAN’S LAYER DYSTROPHIES 1. Reis-Buckler’s 2. Thiel-Behnke’s 3. Grayson –Wilbrandt’s
- 23. BOWMAN’S LAYER • Acellular modified layer of anterior stroma • Randomly arranged Type 1 collagen fibers • Pores for corneal nerves • Not regenerated after damage
- 28. 1. Lattice corneal dystrophy 2. Granular Corneal dystrophy 3. Macular corneal dystrophy 4. Schnyder corneal dystrophy 5. Congenital stromal corneal dystrophy 6. Fleck corneal dystrophy 7. Posterior amorphous corneal dystrophy 8. Central cloudy dystrophy of Francois 9. Pre-Descemet corneal dystrophy
- 31. LATTICE DYSTROPHY • LCD type I: – classic form of LCD – BIGH3 gene mutation – Isolated amyloid deposition in the cornea
- 32. LCD type II (Meretoja syndrome) • Systemic amyloidosis - skin, cranial nerves and cornea • Gelsolin gene
- 33. • LCD types III and IIIA present later in life with thicker linear opacities in the mid corneal stroma • LCD type III: – autosomal recessive – 7th-8th decade – No erosions • LCD IIIA – autosomal dominant – BIGH3 mutation – 4th-5th decade – erosions and decreased vision
- 34. LCD type IV • Deep stroma • BIGH3 gene mutation
- 41. 1. Fuchs endothelial corneal dystrophy 2. Posterior polymorphous corneal dystrophy 3. Congenital hereditary endothelial dystrophy 1 (CHED1) 4. Congenital hereditary endothelial dystrophy 2 (CHED2) 5. X-linked endothelial corneal dystrophy (XECD)
- 43. FUCH’S ENDOTHELIAL DYSTROPHY- Stage 1 GUTTATA • Clear, vesicular endothelial secretions • Project into the potential space between the endothelium and Descemet’s
- 44. Stage 2 • Stromal edema
- 45. Stage 3 • Epithelial bullae
- 46. Stage 4
- 47. MANAGEMENT OF FUCH’S: – Hypertonic solutions – BCL – Lubricants – Lower IOP – Conjunctival flap – Corneal transplantation: PK/ DSEK
- 48. CHED CHED1: First two years of life photophobia and tearing nystagmus is absent CHED2: At birth Diffuse ground glass appearance Nystagmus Deafness
- 51. HISTOPATHOLOGY
- 52. LATTICE DYSTOPHY/ AMYLOID/ PINK AMORPHOUS/ CONGO RED/APPLE GREEN BIREFRINGENCE
- 53. GRANULAR DYSTOPHY/ HYALINE/ MASSON TRICHROME - RED
- 54. MACULAR DYSTOPHY/ MPS/ ALCIAN BLUE
- 56. CORNEAL GUTTAE
- 58. Images of a normal cornea obtained using the HRT III
- 59. Confocal microscopy in EBMD
- 60. AS-OCT • Diagnosis – Corneal Imaging – Corneal measurements • Management: Treatment planning – Refractive surgery
- 61. PACHYMETRY • Measurement of cornea thickness • Indirect measurement of the endothelial pump function • Central corneal thickness greater than the thickness in the mid-peripheral suspect endothelial dysfunction
- 62. MANAGEMENT Topical treatment • Hyperosmotics • Lubricants • Steroids Contact lenses: • Soft lenses for recurrent erosions • Regression of Lisch epithelial corneal dystrophy • High-Dk soft lenses – ruptured bullae in endothelial dystrophies • RGP lenses for visual rehabilitation • Scleral lenses for both
- 63. Long-term follow up of autologous serum treatment for recurrent corneal erosions Clinical & Experimental Ophthalmology 38(7): 683–687 2010
- 64. SURGICAL MANAGEMENT • ANTERIOR STROMAL PUNCTURE
- 65. ASP-Nd:YAG laser Human cornea treated at 2.0-2.5 mJ. Precise vertical cut penetrates to base of Bowman's layer (X1600) Ref: Invest Ophthalmol Vis Sci 31:1555-1559, 1990
- 68. PTK
- 69. Adjunctive Rx: • Debridement • MMC
- 70. KERATOPLASTY
- 73. MOLECULAR GENETICS • Better understanding of the disease process • Identification of overlapping and atypical cases • Precise classification for treatment planning • Identification of carrier status – genetic counselling
- 74. GENES IMPLICATED IN CD • TGFb-1 – EBMD – Thiel-Behnke – Granular – Lattice • GELSOLIN GENE – Meretoja(Lattice type II) • TACSTD2 GENE (TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2) – Gelatinous drop like corneal dystrophy (GDLD) • KRT3 AND KRT12 GENES – Meesmann’s • CHST6 (CARBOHYDRATE 6-SULFOTRANSFERASE) GENE – Macular dystrophy • COL8A2 – Fuch’s
- 76. Corneal Dystrophies in India • Autosomal dominant TGFBI related dystrophies: North India • Autosomal recessive CHED and MCD: South India
- 77. GENETIC COUNSELLING • Autosomal dominant inheritance • Critical if the prognosis is guarded: – Meesmann's – Reis-Buckler's – Granular – Lattice
- 78. GENE THERAPY • Direct observation of the target tissue in vivo • Immune-privileged • Topical/ intrastromal/ intracameral gene delivery • Corneal transplantation – Ex vivo gene transfer – Modulation in the donor cornea prior to transplantation – Reduces • Immunogenicity • Recurrence in donor cornea • Contralateral eye - control
- 79. RECAP
- 80. “What’s hardest of all? It’s what you think is easiest: to see with your eyes what’s before your eyes.” - Johann Wolfgang von Goethe
Editor's Notes
- What causes diminution of visual acuity in corneal dystrophy?
- FAMILY H/O: Visual impairment or corneal disease R/O Corneal Degeneration: h/o systemic diseases/ ocular disorders Differences b/w degeneration and dystrophy Autosomal dominance variable expressivity With clinical investigations, accurate diagnosis of corneal dystrophies is possible in approximately 50% of cases and histopathological correlation can bedone in about 60% of them
- The opacity units form the opacity pattern, often best seen in indirect illumination.
- Insert pics of normal epithelium
- Microvilli – attachment ot glycocalyx of tearfilm
- When to treat? - Bandage contact lens - Surgical intevention
- Discuss the pathology Identify 1.2.3
- What are the techniques of illumination for different lesions?
- What technique of illumination is used?? Sclerotic scatter
- LASIK surgery is an absolute contraindication for a patient who has EBMD because it will significantly worsen its severity. ???? WHAT HAPPENS???
- How long hypertonic? 3 months Funda of CLs – to cover up the exposed nerve endings9sub-epithelial plexus) and to prevent mechanical shearing Funda of ASP and PTK ASP – manual ( at 0.25mm intervals) -Nd:YAG laser After ASP procedure, what?? Cycloplegia/antibiotic-steroid/hypertonic
- Not regenerated after damage significant opacification which effects VA
- II: Lattice dystrophy type II (MeretoJa's syndrome). There are refractile corneal deposits that differ in several respects from those seen in lattice dystrophy type I. The deposits are fewer, coarser, and most dense in the corneal mid-periphery, and generally extend to the limbus with a more radial orientation. The central cornea is usually spared, and the cornea is relatively clear between the lines.
- Lattice dystrophy type III. In this patient the lattice lines are coarse and there are prominent terminal bulbs Lattice IIIA: Coarse lattice lines traverse the cornea from limbus to limbus
- Type IV: coarse lines coming IN FROM LIMBUS
- SUB-EPITHELIAL FIBROSIS
- STROMAL EDEMA INCREASED STROMAL THICKNESS CENTRALLY
- Lattice dystrophy
- Granular dystrophy
- Macular dystrophy
- (A) Isolated smooth excrescences (corneal guttae). guttae themselves appear as dark spots, sometimes with bright central reflections. (B) Multiple coalesced excrescences. Only the bright reflection from the apex of each excrescence is clearly seen. (C and D) Intracellular bright structures possibly representing cell nuclei.
- Advantages
- Images of a normal cornea obtained using the HRT III. (A) Epithelial wing cells. (B) Basal epithelial cells. (C) Epithelial nerve plexus. (D) Anterior stroma just below Bowman's layer. (E) Mid stroma. Note decreased density of keratocyte nuclei as compared to (D). (F) Normal endothelium. Horizontal field width = 400 µm.
- C) Highly reflective curvilinear, multilaminar lines in the basal epithelium (depth 20 μm). (D) Ring-shaped highly reflective extracellular deposits in the basal epithelium (depth 25 μm). (E) Highly reflective irregular deposit in the basal epithelium (depth 29 μm). (F) Highly reflective geographic opacities in the basal epithelial layer (depth 22 μm).
- thinnest part of the cornea is usually located about 1.5 mm temporal to the center of the corn Mean thickness was 515 µm in the central The central area (within a 4 mm optical zone) is typically thinner than the midperipheral cornea (4–9 mm optical zone), which is thinner than the peripheral cornea (outside a 9 mm optical zone). If the intraocular pressure is normal, epithelial edema develops when the stroma has swollen about 40%, to a corneal thickness greater than 700 µm. If, however, swelling is only 20% or pachymetry demonstrates corneal thickness greater than 620 µm, the risk of corneal decompensation after cataract surgery is significant
- six times daily for three months and then four times daily for another three months. They were also prescribed preservative- free artificial tears four times daily for nine months and tobramycin drops three times daily until the epithelial defect closed. The authors found that six months of treatment with autologous serum drops was sufficient for keeping patients symptom-free for at least 2 ½ yea
- Reis-Buckler and 6 months post-PTK Gelatinous recurrence in graft and post-PTK
- RE – in EBMD- managed with debridement and PTK
- 1. distinct clinico-pathologic phenotypes result from specific mutations in a particular gene or different mutations in the same gene (genetic heterogeneity), leading to a better understanding of their pathogenesis 2. Atypical cases include: unilateral dystrophies dystrophies that involve more than a single laye dystrophies that are associated with extraocular involvement
- COL8A2 gene coding for the alpha-2 chain of type VIII collagen, a short-chain collagen that is a component of endothelial basement membranes
- AD inheritance 50 percent chance of developing the dystrophy if the other parent is not affected. Even though surgical intervention is an option recurrence secondary to cell migration is always possible.
- Accessibility and transparency OF CORNEA live animals - assess the effects of a therapeutic intervention