A Comprehensive Clinical and Biochemical Functional Study of a NovelRPE65Hypomorphic Mutation
Investigative Ophthalmology & Visual Science2008Vol. 49(12), pp. 5235–5235
Citations Over TimeTop 17% of 2008 papers
Birgit Lorenz, Eugenia Poliakov, Maria Schambeck, Christoph Friedburg, Markus N. Preising, T. Michael Redmond
Abstract
The mild clinical phenotype observed is consistent with the residual activity of a severely hypomorphic mutant RPE65. Reduction to <10% of wild-type RPE65 activity by homozygous P25L correlates with almost complete rod function loss and cone amplitude reduction. Functional survival of cones is possible in patients with residual RPE65 isomerase activity. This patient should profit most from gene therapy.
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