Article
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.
Retina (Philadelphia, Pa.) - 1 Sept 2020
Pierrache Laurence H M, Ghafaryasl Babak, Khan Muhammad I, Yzer Susanne, van Genderen Maria M, Schuil José, Boonstra F Nienke, Pott Jan W R, de Faber Jan Tjeerd H N, Tjon-Fo-Sang Martha J H, Vermeer Koenraad A, Cremers Frans P M, Klaver Caroline C W, van den Born L Ingeborgh
Abstract excerpt
PURPOSE: To study the disease course of RPE65-associated inherited retinal degenerations (IRDs) as a function of the genotype, define a critical age for blindness, and identify potential modifiers. METHODS: Forty-five patients with IRD from 33 families with biallelic RPE65 mutations, 28 stemming from a genetic isolate. We collected retrospective data from medical charts. Coexisting variants in 108 IRD-associated...
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