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RPE65-related recessive retinopathy

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The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Disease Overview

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

Synonyms

  • LCA2
  • Leber congenital amaurosis 2
  • Leber congenital amaurosis caused by mutation in RPE65
  • Leber congenital amaurosis type 2
  • RP20
  • RPE65 Leber congenital amaurosis
  • RPE65 retinitis pigmentosa
  • RPE65-related recessive retinopathy
  • amaurosis congenita of Leber 2
  • amaurosis congenita of Leber II
  • amaurosis congenita of Leber, type 2
  • recessive RPE65 retinopathy
  • retinitis pigmentosa 20
  • retinitis pigmentosa caused by mutation in RPE65
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