Article
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science - 1 Jun 2000
Jacobson S G, Cideciyan A V, Iannaccone A, Weleber R G, Fishman G A, Maguire A M, Affatigato L M, Bennett J, Pierce E A, Danciger M, Farber D B, Stone E M
Abstract excerpt
PURPOSE: To determine the disease expression in heterozygotes for mutations in the RP1 gene, a newly identified cause of autosomal dominant retinitis pigmentosa (adRP). METHODS: Screening strategies were used to detect disease-causing mutations in the RP1 gene, and detailed studies of phenotype were performed in a subset of the detected RP1 heterozygotes using electroretinography (ERG), psychophysics, and optical...
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