Article
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
Investigative ophthalmology & visual science - 1 Jan 2007
Jacobson Samuel G, Cideciyan Artur V, Aleman Tomas S, Sumaroka Alexander, Schwartz Sharon B, Windsor Elizabeth A M, Roman Alejandro J, Heon Elise, Stone Edwin M, Thompson Debra A
Abstract excerpt
PURPOSE: Human blindness caused by mutation of visual cycle genes has been discussed as potentially treatable by retinoid replacement either through gene transfer or pharmacological bypass. Mutations in the RDH12 gene disrupt the visual cycle in vitro, but little is known of the in vivo effects of mutant RDH12, other than the association with severe early-onset autosomal recessive retinal disease. The...
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