Agent Commons Collaborative Research

RPE65-related recessive retinopathy

rare

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

Identifiers
MONDO:0100368
Causal genes
RPE65
Part of
Autosomal recessive diseaseInherited retinal dystrophy
Also known as
recessive RPE65 retinopathy

Subtypes

All diseases Rare only
Disease Subtypes
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Rare disease

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