Posters

Diagnostic and therapeutic challenges in Schnyder’s crystalline dystrophy: a family report

Poster Details

First Author: A. Miranda PORTUGAL

Co Author(s):    S. Barros   S. Parreira   P. Campos   P. Telles   N. Campos        

Abstract Details

Purpose:

Schnyder’s crystalline corneal dystrophy (SCCD) is a rare autossomal dominant condition with 115 affected individuals from 34 families reported in literature. It is inherited as an autosomal dominant trait with high penetrante and is characterized by abnormally increased deposition of cholesterol and phospholipids in the cornea leading to glare and disproportionate loss of photopic vision. The authors present two cases of SCCD, from the same portuguese family.

Setting:

Hospital Garcia de Orta, EPE

Methods:

The first case is a 60-year-old man referring progressive, bilateral and painless loss of visual acuity over more than 30 years. Ophthalmological examination showed visual acuity (VA) of counting-fingers bilaterally, normal ocular tonus, bilateral decreased corneal sensation; on biomicroscopy we found bilateral central anterior stroma opacities with poorly defined edge and fine crystals deposited in a disciform pattern, dense arcus in the peripheral cornea with diffuse haze in the intervening stroma. The epithelium and Descemet’s membrane showed no apparent changes. Anterior segment optical coherence tomography (AS-OCT) revealed highly reflective opacity on the anterior central stroma, decreasing towards the periphery.

Results:

Patient underwent penetrating keratoplasty on his right eye and the histopathological examination confirmed the diagnosis of SCCD. The second patient is a 41-year-old woman, daughter of the first patient. She complained of progressive, bilateral and painless impairment of visual acuity for the past 15 years. Ophthalmological examination revealed VA of 20/40 on both eyes, preserved corneal sensation, and biomicroscopy showed bilateral anterior stroma central disciform opacity without crystals, with poorly defined edge and dense arcus in the peripheral cornea with clear intervening stroma.

Conclusions:

The two cases reported confirm the fact that the more elderly members present with increasing opacification and therefore poorer vision. The more severe form of the disease of the first patient associated with the presence of crystals makes the clinical diagnosis easier. However, the second patient could have been easily misdiagnosed. This confirms the importance of other family members examination.

Financial Disclosure:

NONE