ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy

Gerald A Fishman; Edwin M Stone; David A Eliason; Chris M Taylor; Martin Lindeman; Deborah J Derlacki

doi:10.1001/archopht.121.6.851

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ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy

Journal article

Open access

Peer reviewed

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy

Gerald A Fishman, Edwin M Stone, David A Eliason, Chris M Taylor, Martin Lindeman and Deborah J Derlacki

Archives of ophthalmology (1960), Vol.121(6), pp.851-855

06/2003

DOI: 10.1001/archopht.121.6.851

PMID: 12796258

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https://doi.org/10.1001/archopht.121.6.851View

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Abstract

To identify sequence variations in the ABCA4 gene in a cohort of patients with autosomal recessive cone-rod dystrophy. The coding sequences of the ABCA4 gene were analyzed in 30 unrelated probands. In those patients with plausible disease-causing variations, correlations were made between genotype and fundus phenotype as well as with electrophysiological and visual field findings. Sixteen (53%) of 30 probands were found to harbor plausible disease-causing variations in the ABCA4 gene. Two distinctly different fundus phenotypes were observed in our cohort of patients. Twelve patients showed diffuse pigmentary degenerative changes, whereas 4 showed either no pigmentary changes or only a mild degree of peripheral pigment degeneration. An associa-tion between certain sequence variations and each of these 2 different phenotypes was observed. Our findings confirm that a substantial percentage of patients with autosomal recessive cone-rod dystrophy are likely to harbor a mutation in the ABCA4 gene as the cause of their disease. The fundus phenotype observed in such patients is quite variable, and certain fundus phenotypes may be more associated with certain genotypes. Clinical Relevance Identification of the molecular genetic basis for various inherited human retinal dystrophies, such as cone-rod dystrophy, facilitates a potentially better understanding of the mechanisms by which photoreceptor cells degenerate. This in turn provides guidance as to how to better proceed in identifying the most optimal future therapeutic strategies.

Electroretinography

Prevalence

Retinal Degeneration - genetics

Humans

Middle Aged

Genotype

Male

Mutation, Missense

Genes, Recessive

Genetic Variation

Phenotype

ATP-Binding Cassette Transporters - genetics

DNA Mutational Analysis

Polymerase Chain Reaction

Adult

Female

Aged

Retinal Degeneration - pathology

Photoreceptor Cells, Vertebrate - pathology

Details

Title: Subtitle: ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
Creators: Gerald A Fishman - Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, 60612, USA. gerafish@uic.edu
Edwin M Stone
David A Eliason
Chris M Taylor
Martin Lindeman
Deborah J Derlacki
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.121(6), pp.851-855
DOI: 10.1001/archopht.121.6.851
PMID: 12796258
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Grant note: EY0172 / NEI NIH HHS
Language: English
Date published: 06/2003
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980020102771

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