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Article

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype.

Clinical genetics - 1 May 2026

Stephenson Kirk A J, Shao Zhuo, Tumber Anupreet, Tavares Erika, Ahmed Kashif, Higginbotham Edward J, Marshall Christian R, Maynes Jason T, Rajala Ammaji, Rajala Raju V S, Héon Elise, Vincent Ajoy

Abstract excerpt

Retinol dehydrogenases (RDHs) catalyze multiple steps in the visual cycle to regenerate 11-cis-retinal, a critical component in rod phototransduction. The structural homology between RDHs enables functional redundancy; yet Mendelian disorders are linked to RDHs. Variants in RDH12 and RDH5 cause non-syndromic inherited retinal dystrophy (IRD), whilst variants in RDH11 cause syndromic IRD. RDH11 is a minor...

Topics

Humans
Child
Male
Alcohol Oxidoreductases
Retinal Pigment Epithelium
Phenotype
Vitamin A
Retinal Dystrophies
Mutation
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 41459630
DOI: 10.1111/cge.70128
PMCID: PMC13066773

Genes

RDH11
RDH12
RDH5
RPE
RDH10
RDH8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype.PMID 41459630Read ↗

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