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Article

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil.

Molecular vision - 1 Jan 2025

de Freitas Cenachi Sarah Pereira, Frasson Maria, Mares Virgínia, Arantes Rodrigo Rezende, Albuquerque Anna Luiza Braga, Marques Nascentes Anna Laura, De Marco Luiz Armando Cunha, Nehemy Márcio Bittar

Abstract excerpt

Purpose: Biallelic variants in the retinal pigment epithelium-specific 65-kDa protein (RPE65) gene are linked to several inherited retinal diseases (IRDs), including Leber congenital amaurosis (LCA), early-onset severe retinal dystrophy (EOSRD), and retinitis pigmentosa (RP). This study screened patients from a tertiary center in Brazil with IRDs for RPE65 variants to characterize the associated phenotypes....

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PMID: 40384766
PMCID: PMC12085217

Genes

RPE65

Variants

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