Corneal Dystrophies and Degenerations

1. Corneal Dystrophies and Degenerations Optometry 8570 Winter 2008

2. Definitions • Dystrophy: Primary tissue changes of genetic origin which occur in previously normal tissue • Degeneration: Any tissue change occurring in previously normal tissue • Congenital Anomaly: Gross morphological tissue alterations that manifest at birth

3. Bilateral Symmetrical Central Avascular Inherited Early onset (1-2 dec.) Slowly progressive Unrelated to systemic Dz Non-inflammatory Usually 1 corneal layer Unilateral Asymmetrical Peripheral Vascularized Not inherited Mid-life or later Progressive Often systemic Dz assoc. Variable inflammation Usually multiple corneal layers involved (Adapted from S.J. Grondalski, O.D.)Dystrophy Degeneration

4. Anterior Corneal Dystrophies • EBMD (map-dot-fingerprint dystrophy) • Reis-Buckler’s dystrophy • Meesmann’s dystrophy

5. EBMD

6. EBMD

7. EBMD

8. Reis-Buckler’s Dystrophy

9. Reis-Buckler’s Dystrophy

10. Reis-Buckler’s Dystrophy

11. Meesman’s Dystrophy

12. Stromal Dystrophies • Lattice dystrophy • Granular dystrophy • Macular dystrophy • Central crystalline dystrophy (Schneider’s dystrophy) • Others

13. Lattice Dystrophy

14. Lattice Dystrophy

15. Lattice Dystrophy

16. Lattice Dystrophy

17. Lattice Dystrophy – Type 1

18. Granular Dystrophy

19. Granular Dystrophy

20. Granular Dystrophy

21. Granular Dystrophy

22. Macular Dystrophy

23. Macular Dystrophy

24. Macular Dystrophy

25. Central Crystalline Dystrophy(Schnyder’s)

26. Central Crystalline Dystrophy

27. Central Crystalline Dystrophy

28. Endothelial Dystrophies • Fuch’s dystrophy • PPD • Congenital hereditary endothelial dystrophy (CHED)

29. Fuch’s Dystrophy

30. Guttata

31. Guttata

32. Fuch’s Bullae

33. Posterior Polymorphous Dystrophy (PPD) • Clinical Pearls: • One of the mesodermal dysgenesis syndromes • Autosomal dominant, presents in early life • Bilateral (vs. ICE syndrome) • M = F • Changes in Descemet’s result in epithelialization of the endothelium; proliferative tendencies • May appear as vesicles arranged in a linear or grouped pattern, usually as broad bands with irregular scalloped edges • May cause iridocorneal adhesions and/or decentered pupil (corectopia)

34. PPD

35. Congenital Hereditary Endothelial Dystrophy (CHED) • Clinical Pearls: • Bilateral corneal edema with normal corneal diameter, normal IOP, and no guttata • Autosomal recessive: present at birth, non-progressive, nystagmus present, pain and photophobia uncommon • Autosomal dominant: first seen in childhood, slowly progressive, pain/tearing/photophobia common

36. Degenerations • Depositions (corneal deposits of material that shouldn’t be there) • Keratoconus • Peripheral degenerations (Marginal thinning disorders)

37. Depositions • Arcus (lipid) • Band keratopathy (calcium) • Salzmann’s nodular degeneration • Spheroidal degeneration • Amyloid degeneration • Coat’s ring • Systemic meds

38. Arcus

39. Band Keratopathy

40. Salzmann’s Nodular Degeneration

41. Vortex Epitheliopathy

42. Keratoconus • Clinical Pearls: • Usually bilateral and asymmetric • Slowly progressive irregular astigmatism secondary to paracentral thinning and bulging of the cornea • Vogt’s striae: vertical tension lines in the posterior cornea • Irregular retinoscopic reflex • Irregular keratometry mires • May be associated with chronic eye rubbing (atopy) • Corneal hydrops (sudden corneal edema) results from rupture of Descemet’s, and may cause sudden reduced vision, pain, red eye, and photophobia

43. Keratoconus • Associated Etiologies: “AMANDA LEAH” • Atopy • Marfan’s syndrome • Addison’s Dz • Down’s syndrome • Amyloidosis • Leber’s congenital amaurosis • Ehler’s Danlos syndrome • Apert’s syndrome • Hypothyroidism

44. Keratoconus

45. Corneal Topography

47. ?

48. ?

49. ?

50. Retinoscopy