Article
Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65.
Investigative ophthalmology & visual science - 25 Sept 2014
Ripamonti Caterina, Henning G Bruce, Ali Robin R, Bainbridge James W, Robbie Scott J, Sundaram Venki, Luong Vy A, van den Born L Ingeborgh, Casteels Ingele, de Ravel Thomy J L, Moore Anthony T, Stockman Andrew
Abstract excerpt
PURPOSE: To characterize visual losses associated with genetic mutations in the RPE65 gene that cause defects in the RPE-specific isomerase, RPE65. RPE65 is an important component of the retinoid cycle that restores 11-cis-retinal after its photoisomerization to its all-trans form. The defects investigated here cause Leber's congenital amaurosis (LCA2), an autosomal, recessively-inherited, severe,...
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