Article
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
Investigative ophthalmology & visual science - 1 Oct 1999
Souied E H, Ducroq D, Rozet J M, Gerber S, Perrault I, Sterkers M, Benhamou N, Munnich A, Coscas G, Soubrane G, Kaplan J
Abstract excerpt
PURPOSE: To report the ophthalmologic features of a novel truncating mutation in the ABCR gene in a patient affected with late-onset fundus flavimaculatus (FFM). METHODS: A complete ophthalmologic examination was performed in a 70-year-old patient, including best-corrected visual acuity measurement, slit lamp and fundus examination, fundus photographs, frequent fluorescein and indocyanine green angiographies,...
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