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Article

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.

International journal of molecular sciences - 5 Jul 2021

Aoun Manar, Passerini Ilaria, Chiurazzi Pietro, Karali Marianthi, De Rienzo Irene, Sartor Giovanna, Murro Vittoria, Filimonova Natalia, Seri Marco, Banfi Sandro

Abstract excerpt

Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EO[S]RD), which differ in severity and age of onset. IRDs are caused by mutations in >250 genes. Variants in the RPE65 gene account for 0.6-6% of RP and 3-16% of LCA/EORD cases. Voretigene neparvovec is a gene therapy...

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Identifiers

PMID: 34281261
DOI: 10.3390/ijms22137207
PMCID: PMC8268668

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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