Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6.

ABSTRACT:

Purpose

The purpose of this study was to describe the spectral domain-optical coherence tomography findings in a patient with cone-rod dystrophy 6.

Methods

This is a case report of a 13-year-old girl who presented with progressive loss of vision. Fundus photography, a fluorescein angiogram, an electroretinogram, autofluorescence imaging, spectral domain-optical coherence tomography, and genetic testing were performed.

Results

The patient's fundi showed mild granularity of the perifoveal retinal pigment epithelium. An electroretinogram showed cone dysfunction and normal rod function. Genetic testing showed a heterozygous CGC>CAC nucleotide substitution at codon 838 of the GUCY2D gene. This results in an amino acid change of Arg838His and provides a molecular diagnosis

SUBMITTER: Kim BJ 

PROVIDER: S-EPMC3015235 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature