RPE65-related recessive retinopathy

MONDO:0100368

A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.

Also known as: RPE65-related recessive retinopathy, recessive RPE65 retinopathy, LCA2, Leber congenital amaurosis 2, Leber congenital amaurosis caused by mutation in RPE65, Leber congenital amaurosis type 2, RP20, RPE65 Leber congenital amaurosis

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