The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
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DOI: 10.1016/j.ajo.2018.09.024
Abstract: PURPOSE To delineate the natural history of visual parameters over time in individuals with biallelic RPE65 mutation-associated inherited retinal dystrophy (IRD); describe the range of causative mutations; determine potential genotype/phenotype relationships; and describe the variety… read more here.
Keywords: natural history; rpe65 mutation; inherited retinal; rpe65 ... See more keywords