First Genetic Analysis of Lattice Corneal Dystrophy Type I in a Family from Bulgaria

Abstract

Purpose

To report a new family belonging to a previously non-investigated geographic area with a rare form of lattice corneal dystrophy (LCD).

Methods

Detailed ophthalmologic analysis was carried out on a Bulgarian woman, enrolled for perforating keratoplasty. In order to obtain a final diagnosis both histology and genetic analysis were performed.

Results

Upon transplantation, histologic analysis of the dystrophic cornea revealed the typical staining pattern and amyloid deposits of lattice corneal dystrophies. Genetic analysis of the subject and her daughter confirmed the presence of an autosomal dominant R124C mutation within exon 4 of the BIGH3 gene, encoding for keratoepithelin, while showing no abnormalities in her son.

Conclusions

The identification of this mutation allows the unambiguous classification of this corneal dystrophy as LCD type I. A first case of LCD I in a family from Eastern Europe could help to better clarify the molecular epidemiology of the disease.