1. Grand Rounds Amir R. Hajrasouliha, M.D. University of Louisville Department of Ophthalmology and Visual Sciences Friday, June 20th, 2014

2. Case Presentation CC: Gradual blurred vision OU HPI: 26 y/o otherwise healthy caucasian male present with progressive decrease of vision OU (OD>OS) in past year. The patient reported that he had bilateral laser vision correction (LASIK) 4 years ago.

3. Case presentation: History POHx: POHx: LASIK 4 years ago LASIK 4 years ago PMHx: PMHx: None None FH: FH: Mother with unknown corneal dystrophy Mother with unknown corneal dystrophy Eye med: None Meds: None

4. RightLeft ExternalWNL LidsWNL ConjunctivaWhite and quiet Corneas/p LASIK with multiple round/disc-shaped intrastromal corneal opacities with intervening clear stroma sparing the peripheral corneal s/p LASIK with few intrastromal corneal opacities Anterior ChamberDeep and quiet IrisWNL LensWNL DFEWNL VA T 20/40 -2 -1.00 sphere 20/20 -1 sc 11 P 12wnl EOM and CVF Full

5. OD OD

6. OS

7. OCT OD

12. OCT OS

14. Assessment & Plan 26 y/o male with corneal deposits at interface post LASIK OU ; OD>>OS Granular corneal dystrophy OU

15. Management Observation Observation

16. Laser refractive surgery (LRS) is contraindicated in Unstable refractive error Unstable refractive error Keratoconus Keratoconus Herpetic keratitis Herpetic keratitis Significant cataract Significant cataract Uncontrolled glaucoma Uncontrolled glaucoma Uncotrolled diabetes Uncotrolled diabetes Uncontrolled collagen vascular disease Uncontrolled collagen vascular disease Pregnancy Pregnancy Pt on amiodarone and isotretinoin Pt on amiodarone and isotretinoin

17. LASIK is contraindicated in LASIK is contraindicated in Epithelial basement membrane dystrophy (EBMD) Epithelial basement membrane dystrophy (EBMD) Fuchs Fuchs PRK is treatment of choice for EMBD and its safety in Fuchs is not established PRK is treatment of choice for EMBD and its safety in Fuchs is not established

20. Granular corneal dystrophy type I Inheritance: Autosomal dominant Inheritance: Autosomal dominant Pathology: Pathology: Hyaline material, stain bright red with Masson trichrome stain. Hyaline material, stain bright red with Masson trichrome stain. Hyper-reflective opacities are seen on confocal microscopy. Hyper-reflective opacities are seen on confocal microscopy. Mutation: TGFBI gene on chromosome 5q31 Mutation: TGFBI gene on chromosome 5q31

21. Clinical finding Onset early in life around teens Onset early in life around teens Lesions do not extend to limbus but can extend anterioly through focal breaks in Bowman layer. Lesions do not extend to limbus but can extend anterioly through focal breaks in Bowman layer. Slowly progressive with vision only rarely dropping to 20/200 after age 40. Slowly progressive with vision only rarely dropping to 20/200 after age 40. Recurrent erosions occur and vision decreases as the opacities become more confluent. Recurrent erosions occur and vision decreases as the opacities become more confluent.

22. Treatment Early in disease, no treatment is needed. Early in disease, no treatment is needed. Recurrent erosions may be treated with contact lens, superficial keratectomy, or PTK Recurrent erosions may be treated with contact lens, superficial keratectomy, or PTK When visual acuity is affected, DALK or PK has a good prognosis. When visual acuity is affected, DALK or PK has a good prognosis. Recurrence in the graft (anterior and peripherally) may occur after many years as fine sub-epithelial opacities varying from the original presentation. Recurrence in the graft (anterior and peripherally) may occur after many years as fine sub-epithelial opacities varying from the original presentation.

23. PTK treatment for GCD1

24. Clinical & Experimental Ophthalmology, 34, no. 8 (2006): 808-810

25. In 2002 and 2003 there were some reports from Japan that demonstrated corneal electrolysis for granular lesions at the interface In 2002 and 2003 there were some reports from Japan that demonstrated corneal electrolysis for granular lesions at the interface after LASIK surgery, resulted in after LASIK surgery, resulted in clearing of the cornea ; however, clearing of the cornea ; however, the technique did not become the technique did not become popular as the recurrence rate popular as the recurrence rate was high. was high.

26. © 2008 Lippincott Williams & Wilkins, Inc. Published by Lippincott Williams & Wilkins, Inc.2 Deposits of Transforming Growth Factor-[beta]-Induced Protein in Granular Corneal Dystrophy Type II After LASIK. Kim, Tae-im; Roh, Mi; Grossniklaus, Hans; E MD, MBA; Kang, Shin; Jeong MD, PhD; Hamilton, Stephen; Schorderet, Daniel; Lee, W; Kim, Eung; Kweon MD, PhD Cornea. 27(1):28-32, January 2008. DOI: 10.1097/ICO.0b013e318156d36d

27. Secondary wound healing process induce TGF-β secretion which stimulates mutated TGFβI protein product synthesis (kerato- epithelin or TGFβIp). The misfolded protein then accumulates as the insoluble protein aggregates and results in clinical defect. Munier FL, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nature Genetics. 1997; 15: 247-251.

28. Thank You