Article
Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa.
Human gene therapy - 1 Jul 2023
Feathers Kecia L, Jia Lin, Khan Naheed W, Smith Alexander J, Ma Jian-Xing, Ali Robin R, Thompson Debra A
Abstract excerpt
The use of AAV-RPE65 vectors for gene supplementation has achieved spectacular success as a treatment for individuals with autosomal recessive retinal disease caused by biallelic mutations in the visual cycle gene RPE65. However, the efficacy of this approach in treating autosomal dominant retinitis pigmentosa (adRP) associated with a monoallelic mutation encoding a rare D477G RPE65 variant has not been studied....
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