Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene.

doi:10.1038/eye.2013.176

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Article

Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene.

Eye (London, England) - 1 Nov 2013

Gemenetzi M, Lotery A J

Abstract excerpt

PURPOSE: To investigate phenotypic variability in terms of best-corrected visual acuity (BCVA) in patients with Stargardt disease (STGD) and confirmed ABCA4 mutations. METHODS: Entire coding region analysis of the ABCA4 gene by direct sequencing of seven patients with clinical findings of STGD seen in the Retina Clinics of Southampton Eye Unit between 2002 and 2011.Phenotypic variables recorded were BCVA,...

Topics

ATP-Binding Cassette Transporters
Adult
Electrophysiology
Female
Fluorescein Angiography
Frameshift Mutation
Genetic Predisposition to Disease
Genotype
Humans
Macular Degeneration
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation, Missense

Phenotype

Retrospective Studies

Sequence Analysis, DNA

Stargardt Disease

Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 23949494
DOI: 10.1038/eye.2013.176
PMCID: PMC3831132

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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