Posters

Concomitant corneal dystrophies: a case report

Poster Details

First Author: M.Rodriguez Merchante SPAIN

Co Author(s):    M. Fernández Gurria   F. Vicente Andreu   R. Wakfie Corieh   J. San Roman Llorens   B. García Sandoval        

Abstract Details

Purpose:

To present a case report of a combination of corneal dystrophies, François-Neetens speckled corneal dystrophy with positive mutation for the PIKFYVE gene in both eyes and unilateral Lisch epitelial corneal dystrophy.

Setting:

Ophthalmology Department, Fundacion Jimenez Diaz Hospital, Madrid, Spain.

Methods:

Best-corrected visual acuity (BCVA). Performed slit-lamp biomicroscopy (SLB). Anterior segment optical coherence tomography (AS-OCT). Ophthalmogenetic study with Next Generation Sequencing (NGS).

Results:

A 39-year-old woman was referred to ophthalmology department for a progressive blurry vision in her left eye (LE). Her BCVA in her right eye (RE) was 1.0 (decimal scale) and 0.8 in LE. In the SLB, stromal punctate opacities were observed in both eyes out of the visual axis (VA) and a central grayish microcystic opacity, which was confined to epithelium according to AS-OCT. Three months later, the BCVA in the LE decreased to 0.6 due to a marked increase of the central microcystic opacity. The patient was referred to ophthalmogenetics and epitelectomy of the affected area was programmed.

Conclusions:

The results of the NGS showed a genetic variant in heterozygosity in the PIKFYVE gene, which has been associated with autosomal dominant forms of François-Neetens speckled corneal dystrophy. On the other hand, the pathological anatomy showed microvesicles and vacuolization throughout the thickness of the cell cytoplasm, which is indicative of corneal epithelial lisch dystrophy. This could be the first reported case of an association between these two types of corneal dystrophies, further investigations are needed to genetically characterize Lisch dystrophy.

Financial Disclosure:

None