A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
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DOI: 10.1002/mgg3.70060
Abstract: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. RPE65, one of the causative genes for LCA, encodes retinoid… read more here.
Keywords: korean patient; patient leber; congenital amaurosis; rpe65 ... See more keywords