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Article

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.

Nature genetics - 1 Jun 2001

Thompson D A, Li Y, McHenry C L, Carlson T J, Ding X, Sieving P A, Apfelstedt-Sylla E, Gal A

Abstract excerpt

The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of reactions that take place in retinal pigment epithelium (RPE); (ref. 1). The first of these reactions is catalyzed by lecithin retinol acyltransferase (LRAT); (ref. 2). We screened 267 retinal dystrophy patients for mutations in LRAT and identified disease-associated mutations (S175R and...

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Source

Identifiers

PMID: 11381255
DOI: 10.1038/88828

Genes

LRAT
RPE

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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Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.PMID 11381255Read ↗

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