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Article

Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.

The Journal of biological chemistry - 28 Dec 2001

Lidén M, Romert A, Tryggvason K, Persson B, Eriksson U

Abstract excerpt

Mutations in the gene encoding 11-cis-retinol dehydrogenase (RDH5; EC ) are associated with fundus albipunctatus, an autosomal recessive eye disease characterized by stationary night blindness and accumulation of white spots in the retina. In addition, some mutated alleles are associated with development of cone dystrophy, especially in elderly patients. The numbers of identified RDH5 mutations linked to fundus...

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Source

Identifiers

PMID: 11675386
DOI: 10.1074/jbc.M107337200

Genes

RDH5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.PMID 11675386Read ↗

11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.Semantic proximity Read ↗

Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.Semantic proximity Read ↗

A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.Semantic proximity Read ↗

Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.Semantic proximity Read ↗

Young Monozygotic Twin Sisters With Fundus Albipunctatus and Cone DystrophySemantic proximity Read ↗

Fundus albipunctatus disease-associated RDH5/L310delinsEV mutation undertakes AMFR-mediated polyubiquitination and degradation in proteasome.Semantic proximity Read ↗

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).Semantic proximity Read ↗

Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus.Semantic proximity Read ↗

Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.Semantic proximity Read ↗

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)Semantic proximity Read ↗

A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.Semantic proximity Read ↗

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.Semantic proximity Read ↗

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