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Case Study: August 2016
History
A 25 year old male presents with photosensitivity. Examination reveals bilateral corneal erosions and discrete white stromal opacities in both corneal stromas. The patient undergoes a penetrating keratoplasty.
FIg 1 is the macroscopic image of one of the corneas.
Fig 2 shows the H and E
Fig 3 is a Masson Trichrome image.
Questions
1. What does Fig 1 show?
2. What does Fig 2 and 3 depict?
3. What is the diagnosis?
4. Which gene is mutated in this case?
5. Which other conditions are caused by mutations in the same gene?
6. What could happen to the grafted cornea in this case?
7. Why is the type of specimen seen in Fig 1 becoming rarer to examine in the eye pathology laboratory?
Answers
1. Multiple, white, discrete opacities, mostly axial and paraxial, with clear intervening stroma and periphery.
2. Hyaline type irregular subepithelial deposits, which are crimson with a Masson trichrome stain.
3. Granular dystrophy
4. TGF B1 (or BIGH3).
5. Lattice, Avellino, Reis-Buckler, Thiel-Bhenke dystrophies.
6. The dystrophy can recur in the graft.
7. Because of the use of PTK for superficial deposits.
