Article
An OTX2 Gene Mutation Causing a More Severe Retinal Phenotype in a Female RPGR Mutation Carrier.
Ophthalmic surgery, lasers & imaging retina - 1 Apr 2022
Bhat Leena, De Salvo Gabriella, Akyol Engin, Self James E, Meduri Alessandro
Abstract excerpt
This study describes the clinical features of a pedigree with a novel retinitis pigmentosa GTPase regulator gene mutation in whom one hemizygous man has a typical manifesting phenotype and three heterozygous women demonstrate a typical carrier phenotype. A fourth heterozygous woman is described with a strikingly severe retinal phenotype and also harbors an independent disease-causing mutation in the OTX2 gene and...
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