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Article

Higher Throughput Assays for Understanding the Pathogenicity of Variants of Unknown Significance in the RPE65 Gene.

Investigative ophthalmology & visual science - 1 Oct 2025

Azizzadeh Pormehr Leila, Manian Kannan Vrindavan, Cho Ha Eun, Redmond T Michael, Comander Jason

Abstract excerpt

Purpose: RPE65 is a key enzyme in the visual cycle that regenerates 11-cis-retinal. Mutations in RPE65 cause a retinal dystrophy that is treatable with an approved gene therapy. Variants of unknown significance (VUS) on genetic testing can prevent patients from obtaining a firm genetic diagnosis and accessing gene therapy. Because most RPE65 mutations have a low protein expression level, this study developed and...

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Source

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Identifiers

PMID: 41051147
DOI: 10.1167/iovs.66.13.10
PMCID: PMC12514977

Genes

RPE65

Variants

Provenance

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

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