/RPE65-related recessive retinopathy

RPE65-related recessive retinopathy

Rare Disease

MONDO:0100368

Also Known As

RPE65-related recessive retinopathyrecessive RPE65 retinopathyLCA2Leber congenital amaurosis 2Leber congenital amaurosis caused by mutation in RPE65Leber congenital amaurosis type 2RP20RPE65 Leber congenital amaurosisRPE65 retinitis pigmentosaamaurosis congenita of Leber 2amaurosis congenita of Leber IIamaurosis congenita of Leber, type 2retinitis pigmentosa 20retinitis pigmentosa caused by mutation in RPE65

Definition

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