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Article

A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.

Ophthalmic genetics - 1 Aug 2026

Huynh Brandon C, Sheri Narin, Benson Matthew D

Abstract excerpt

The gene retinoid isomerohydrolase retinal pigment epithelium 65 (RPE65; OMIM# 180069), is abundantly expressed in the RPE and encodes an isomerohydrolase enzyme that catalyzes an essential step in the visual cycle by converting all-trans retinyl ester to 11-cis retinol. Most pathogenic variants in RPE65 are loss-of-function and have been associated with autosomal recessive inherited retinal diseases (IRD) such...

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Identifiers

PMID: 41845931
DOI: 10.1080/13816810.2026.2631747

Genes

RPE65
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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