Document Detail

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.
MedLine Citation:
PMID:  12796258     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To identify sequence variations in the ABCA4 gene in a cohort of patients with autosomal recessive cone-rod dystrophy. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Gerald A Fishman; Edwin M Stone; David A Eliason; Chris M Taylor; Martin Lindeman; Deborah J Derlacki
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Archives of ophthalmology     Volume:  121     ISSN:  0003-9950     ISO Abbreviation:  Arch. Ophthalmol.     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-06-10     Completed Date:  2003-06-19     Revised Date:  2009-11-03    
Medline Journal Info:
Nlm Unique ID:  7706534     Medline TA:  Arch Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  851-5     Citation Subset:  AIM; IM    
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, 60612, USA.
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MeSH Terms
ATP-Binding Cassette Transporters / genetics*
DNA Mutational Analysis
Genes, Recessive
Genetic Variation*
Middle Aged
Mutation, Missense
Photoreceptor Cells, Vertebrate / pathology*
Polymerase Chain Reaction
Retinal Degeneration / genetics*,  pathology
Grant Support
Reg. No./Substance:
0/ABCA4 protein, human; 0/ATP-Binding Cassette Transporters

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