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Article

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

Eye (London, England) - 1 Apr 2014

Mukherjee R, Robson A G, Holder G E, Stockman A, Egan C A, Moore A T, Webster A R

Abstract excerpt

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...

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Identifiers

PMID: 24480840
DOI: 10.1038/eye.2014.7
PMCID: PMC3983649

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Source receipt: pubmed, retrieved 7 Sept 2026.

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