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Article

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Nature genetics - 1 Aug 2004

Janecke Andreas R, Thompson Debra A, Utermann Gerd, Becker Christian, Hübner Christian A, Schmid Eduard, McHenry Christina L, Nair Anita R, Rüschendorf Franz, Heckenlively John, Wissinger Bernd, Nürnberg Peter, Gal Andreas

Abstract excerpt

We identified three consanguineous Austrian kindreds with 15 members affected by autosomal recessive childhood-onset severe retinal dystrophy, a genetically heterogeneous group of disorders characterized by degeneration of the photoreceptor cells. A whole-genome scan by microarray analysis of single-nucleotide polymorphisms (ref. 2) identified a founder haplotype and defined a critical interval of 1.53 cM on...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15258582
DOI: 10.1038/ng1394

Genes

RDH12
RDH5

Provenance

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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Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.PMID 15258582Read ↗

Expanding the phenotypic spectrum in RDH12-associated retinal disease.Semantic proximity Read ↗

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.Semantic proximity Read ↗

RDH12 retinopathy: clinical features, biology, genetics and future directionsSemantic proximity Read ↗

Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.Semantic proximity Read ↗

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.Semantic proximity Read ↗

Dominant <i>RDH12</i> -retinitis pigmentosa impairs photoreceptor development and cone function in retinal organoidsSemantic proximity Read ↗

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.Semantic proximity Read ↗

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New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.Semantic proximity Read ↗

RDH12 retinopathy: novel mutations and phenotypic description.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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