Granular Corneal Dystrophy


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Grancular Corneal Dystrophy

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Granular Corneal Dystrophy

  1. 1. Grand Rounds Eric K. Chiu, M.D. Department of Ophthalmology and Visual Science University of Chicago 2/2/05
  2. 2. Case Presentation <ul><li>43 y.o. male presenting with blurred vision bilaterally </li></ul><ul><li>Pt states he is tired of glasses and contacts and is interested in corrective surgery </li></ul><ul><li>No pain/redness/flashes/floaters </li></ul>
  3. 3. Clinical Presentation <ul><li>PMH: none </li></ul><ul><li>All: NKDA </li></ul><ul><li>Meds: none </li></ul><ul><li>Past ocular history: </li></ul><ul><ul><li>myopia </li></ul></ul>
  4. 4. Clinical Presentation <ul><li>SLE </li></ul><ul><ul><li>See photo </li></ul></ul><ul><li>DFE </li></ul><ul><ul><li>wnl </li></ul></ul>
  5. 5. Case Presentation
  6. 6. Clinical Course <ul><li>What would you advise the patient? </li></ul>
  7. 7. Differential Dx. <ul><li>Granular dystrophy </li></ul><ul><ul><li>Stromal dystrophy </li></ul></ul><ul><ul><li>Autosomal dominant </li></ul></ul><ul><li>Reis-Bücklers dystrophy </li></ul><ul><ul><li>Anterior membrane dystrophy </li></ul></ul><ul><ul><li>Affects Bowman’s layer and anterior stroma </li></ul></ul><ul><ul><li>Autosomal dominant </li></ul></ul><ul><li>Macular dystrophy </li></ul><ul><ul><li>Stromal dystrophy </li></ul></ul><ul><ul><li>Dense diffuse stromal opacities </li></ul></ul><ul><ul><li>Autosomal recessive </li></ul></ul>
  8. 8. Clinical Course <ul><li>Pt underwent LASIK surgery bilaterally </li></ul><ul><li>9 years later pt presents to U. Chicago with blurred vision RE>LE </li></ul>
  9. 9. Clinical Course <ul><li>VA SC </li></ul><ul><ul><li>OD 20/400 PH 20/80 </li></ul></ul><ul><ul><li>OS 20/80 PH 20/50 </li></ul></ul><ul><li>IOP GA </li></ul><ul><ul><li>OD 17mmHg </li></ul></ul><ul><ul><li>OS 17mmHg </li></ul></ul>
  10. 10. Clinical Course <ul><li>PKP recommended </li></ul><ul><li>Risks/benefits/alternatives discussed </li></ul>
  11. 11. Clinical Course <ul><li>One year later pt returns to clinic p/w decreased vision RE and LE </li></ul><ul><li>Pt notes increased light sensitivity </li></ul><ul><li>VA SC </li></ul><ul><ul><li>OD 20/300 PH 20/200 </li></ul></ul><ul><ul><li>OS 20/200 PH 20/60 </li></ul></ul>
  12. 12. Clinical Course <ul><li>Pt decided to undergo PKP in RE </li></ul><ul><li>Last seen 3 weeks post-op </li></ul><ul><li>VA SC </li></ul><ul><ul><li>OD 20/300 PH 20/70 </li></ul></ul><ul><ul><li>OS 20/80 PH 20/50 </li></ul></ul>
  13. 13. Clinical Pathology
  14. 14. Clinical Pathology
  15. 15. Clinical Pathology
  16. 16. Clinical Pathology
  17. 17. Clinical Pathology
  18. 18. Clinical Pathology
  19. 19. Clinical Course <ul><li>Pt underwent PKP left eye for decreased vision secondary to stromal opacities </li></ul>
  20. 20. Granular Dystrophy <ul><li>What is the definition of a corneal dystrophy? </li></ul>
  21. 21. Granular Dystrophy <ul><li>Dystrophy </li></ul><ul><ul><li>Bilateral </li></ul></ul><ul><ul><li>Progressive </li></ul></ul><ul><ul><li>Genetic component </li></ul></ul><ul><ul><li>Little no relationship to environmental or systemic factors </li></ul></ul>
  22. 22. Granular Dystrophy <ul><li>Dystrophy </li></ul><ul><ul><li>Bilateral </li></ul></ul><ul><ul><li>Progressive </li></ul></ul><ul><ul><li>Genetic component </li></ul></ul><ul><ul><li>Little no relationship to environmental or systemic factors </li></ul></ul><ul><li>General </li></ul><ul><ul><li>Stromal dystrophy </li></ul></ul><ul><li>Genetics </li></ul><ul><ul><li>Autosomal dominant </li></ul></ul><ul><ul><li>Chromosome 5q31 </li></ul></ul><ul><ul><ul><li>Lattice </li></ul></ul></ul><ul><ul><ul><li>Avellino </li></ul></ul></ul><ul><ul><ul><li>Reis-B ücklers </li></ul></ul></ul><ul><ul><li>BIGH3 gene </li></ul></ul><ul><ul><ul><li>Formation of keratoepithelin </li></ul></ul></ul>
  23. 23. Clinical <ul><li>Type I </li></ul><ul><ul><li>Most frequent </li></ul></ul><ul><ul><li>Early onset in life with crumblike opacities </li></ul></ul><ul><ul><ul><li>Broaden into disciform appearance in teens </li></ul></ul></ul><ul><ul><li>Do not extend to limbus </li></ul></ul><ul><ul><li>Can extent anteriorly through breaks in Bowman’s layer </li></ul></ul><ul><ul><li>Slowly progressive </li></ul></ul><ul><ul><ul><li>Vision rarely drops to 20/200 after age 40 </li></ul></ul></ul>
  24. 24. Clinical <ul><li>Type II </li></ul><ul><ul><li>Presents in 2 nd decade </li></ul></ul><ul><ul><li>Fewer, larger ring/disc-shaped deposits in anterior stroma </li></ul></ul><ul><ul><li>Clear areas </li></ul></ul><ul><ul><li>Deposits progressively deeper with age </li></ul></ul><ul><ul><li>Erosions infrequent </li></ul></ul><ul><ul><li>Vision usually better than 20/70 </li></ul></ul>
  25. 25. Clinical <ul><li>Type III </li></ul><ul><ul><li>Presents in infancy with epithelial erosions </li></ul></ul><ul><ul><li>More superficial </li></ul></ul><ul><ul><li>Granular deposits confined to Bowman’s layer or anterior stroma </li></ul></ul><ul><ul><li>Resembles Reis-B ücklers but distinct mutation of BIGH3 gene </li></ul></ul>
  26. 26. Management <ul><li>Early in disease process no treatment needed </li></ul><ul><li>Recurrent erosions </li></ul><ul><ul><li>Contact lenses </li></ul></ul><ul><ul><li>Superficial keratectomy </li></ul></ul><ul><ul><li>PTK </li></ul></ul><ul><li>Decreased VA </li></ul><ul><ul><li>Good prognosis with PKP </li></ul></ul>
  27. 27. Management <ul><li>PKP </li></ul><ul><ul><li>Recurrence in graft may occur after many years as fine subepithelial opacities varying from original presentation </li></ul></ul>
  28. 28. Pathology <ul><li>Pathogenesis </li></ul><ul><ul><li>Granular material consists of hyaline </li></ul></ul><ul><ul><li>Stains bright red with Masson trichrome stain </li></ul></ul><ul><ul><li>Electron dense material made up of rod-shaped bodies immersed in an amorphous matrix </li></ul></ul><ul><ul><li>Noncollagenous protein from corneal epithelium and/or keratocytes </li></ul></ul>
  29. 29. ACGME considerations…check please <ul><li>New patient Comprehensive Eye Exam-No referral 48056 </li></ul><ul><ul><li>Facility charge 152.00 </li></ul></ul><ul><ul><li>Professional charge 201.00 </li></ul></ul><ul><li>External slit lamp photos 48034 </li></ul><ul><ul><li>Facility charge 75.00 </li></ul></ul><ul><ul><li>Professional charge 32.00 </li></ul></ul><ul><li>------------------------------------------- </li></ul><ul><li>Collected  460.00 (paid by check) </li></ul>
  30. 30. ACGME considerations…check please <ul><li>PKP CPT 65730 </li></ul><ul><ul><li>Facility charge $19,326.00 </li></ul></ul><ul><ul><li>Professional charge $ </li></ul></ul><ul><ul><li>------------------------------------ </li></ul></ul><ul><ul><li>Collected  pending </li></ul></ul>
  31. 31. References <ul><li>Ophthalmology. Yanoff. 2nd edition, p 439-440 </li></ul><ul><li>Akhtar S et al. Deposits and proteoglycan changes in primary and recurrent granular dystrophy of the cornea. Archives of Ophthalmology . 1999;117:310-321 </li></ul><ul><li>Rapuano et al. Recurrence of corneal dystrophy after excimer phototherapeutic keratectomy. Ophthalmology . 1999 Aug; 106(8):1490-7 </li></ul><ul><li>Marcon et al. Recurrence of Corneal Stromal Dystrophies after Penetrating Keratoplasty. Cornea . Jan. 2003 22(1):19-21 </li></ul><ul><li>Seitz et al. Morphometric analysis of deposits in granular and lattice corneal dystrophy: histopathologic considerations for phototherapeutic keratectomy. Cornea . 2004 May;23(4): 380-385 </li></ul>