A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.

ABSTRACT:

Purpose

The purpose of this study is to describe the phenotype of a family with de novo mutation in the GUCY2D.

Materials and methods

Five subjects, including two monozygotic twins, underwent ophthalmic clinical examination while some had autofluorescence imaging (AF) and optical coherence tomography (OCT). Symptomatic individuals underwent electrophysiological testing. The youngest subject (21 years) was also evaluated psychophysically. DNA obtained from the individuals was screened for mutations in GUCY2D. Microsatellite markers were used to determine the haplotype of 17p surrounding the GUCY2D gene.

Results

The youngest subject had 6/18 visual acuity, an annulus of hyper-autofluorescence in the perifoveal region, and a subfoveal absence of outer segments on OCT. In

SUBMITTER: Mukherjee R 

PROVIDER: S-EPMC3983649 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature