Clinical Features of Codon 172 RDSMacular Dystrophy
Open Access
- 1 October 1999
- journal article
- ophthalmic molecular-genetics
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 117 (10) , 1373-1383
- https://doi.org/10.1001/archopht.117.10.1373
Abstract
SINCE THE FIRST reports of mutations of the human retinal degeneration slow (RDS)gene in autosomal dominant retinitis pigmentosa (RP) in 1991,1,2 a large number of RDSmutations have been described with peripheral and central retinal degeneration. There has been much interest in the phenotypic variation reported with different mutations of this gene and within a family with a single mutation. Central or peripheral retinal degeneration, or uncommonly a combination of both, may occur to different degrees in individuals within the same family, as observed in the mutation affecting codon 153/154.3 Since these phenotype-genotype correlations were first described, efforts have been made to relate the clinical manifestations to putative functional abnormalities of the RDSmolecule, particularly in view of the remarkable clinical and functional heterogeneity described with this gene.4-15Keywords
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