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Article

Development of a Gene Therapy Vector for RDH12 -Associated Retinal Dystrophy

25 Jun 2019

Abstract excerpt

Early-onset severe retinal dystrophy (EOSRD) is a genetically heterogeneous group of diseases resulting in serious visual disability in children. A significant number of EOSRD cases, often diagnosed as Leber congenital amaurosis (LCA13), are associated with mutations in the gene encoding retinol dehydrogenase 12 (RDH12). RDH12 is a member of the enzyme family of short-chain dehydrogenases/reductases. In the...

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PMID: 31237438
DOI: 10.1089/hum.2019.017

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