Article
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
Investigative ophthalmology & visual science - 1 Aug 2010
Poloschek Charlotte M, Bach Michael, Lagrèze Wolf A, Glaus Esther, Lemke Johannes R, Berger Wolfgang, Neidhardt John
Abstract excerpt
PURPOSE: To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes. METHODS: Fifteen family members were investigated by detailed ophthalmic and electrophysiologic phenotyping. Mutation screening was initially performed with...
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