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Article

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Investigative ophthalmology & visual science - 1 Aug 2025

Abdul Rahman, Liu Xiaoyi, Choi Kirsty, Huang Mary, Mack Heather, Savige Judy

Abstract excerpt

Purpose: The RPE65-associated retinopathies include biallelic Leber congenital amaurosis 2 and severe early childhood-onset RP, and monoallelic RP with choroidal involvement. The population frequencies of these diseases have previously only been estimated from epidemiological studies, but are deduced here from the number of predicted pathogenic heterozygous or carrier variants in a normal cohort using...

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Identifiers

PMID: 40879297
DOI: 10.1167/iovs.66.11.73
PMCID: PMC12400985

Genes

RPE65

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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