Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration
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DOI: 10.1136/bjophthalmol-2018-313580
Abstract: Background Defects in retinol dehydrogenase 12 (RDH12) account for 3.4%–10.5 % of Leber congenital amaurosis and early-onset severe retinal dystrophy (EOSRD) and are a potential target for gene therapy. Clinical trials in inherited retinal diseases… read more here.
Keywords: associated retinal; natural history; retinal degeneration; rdh12 associated ... See more keywords