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Article

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

Investigative ophthalmology & visual science - 1 Apr 2007

Schuster Andreas, Janecke Andreas R, Wilke Robert, Schmid Eduard, Thompson Debra A, Utermann Gerd, Wissinger Bernd, Zrenner Eberhart, Gal Andreas

Abstract excerpt

PURPOSE: To describe the retinal dystrophy phenotype associated with mutations in RDH12, the gene encoding a retinoid dehydrogenase/reductase expressed in the photoreceptor cells. METHODS: Sixteen persons from 12 families with pathogenic RDH12 mutations on both alleles were studied. Retinal phenotypes were characterized by ophthalmic examination, including psychophysical and standardized electrophysiological...

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Source

Identifiers

PMID: 17389517
DOI: 10.1167/iovs.06-0628

Genes

RDH12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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