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Article

Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

American journal of ophthalmology - 1 Oct 2006

Sénéchal Audrey, Humbert Ghyslaine, Surget Marie-Odile, Bazalgette Cécile, Bazalgette Christian, Arnaud Bernard, Arndt Carl, Laurent Eric, Brabet Philippe, Hamel Christian P

Abstract excerpt

PURPOSE: To evaluate the mutation prevalence and phenotype in genes involved in the ocular retinoid metabolism. DESIGN: We analyzed LRAT, encoding the lecithin retinol acyltransferase, and RDH10, a retinal pigment epithelium-specific retinol dehydrogenase. METHODS: We screened by denaturing-high performance liquid chromatography (D-HPLC) and direct sequencing all coding exons of LRAT and RDH10 in 216 patients,...

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Source

Identifiers

PMID: 17011878
DOI: 10.1016/j.ajo.2006.04.057

Genes

LRAT
RDH10
RPE65

Variants

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.

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