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Article

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

Investigative ophthalmology & visual science - 22 Jun 2012

Dev Borman Arundhati, Ocaka Louise A, Mackay Donna S, Ripamonti Caterina, Henderson Robert H, Moradi Phillip, Hall Georgina, Black Graeme C, Robson Anthony G, Holder Graham E, Webster Andrew R, Fitzke Fred, Stockman Andrew, Moore Anthony T

Abstract excerpt

PURPOSE: To report novel variants and characterize the phenotype associated with the autosomal recessive retinal dystrophy caused by mutations in the lecithin retinol acyltransferase (LRAT) gene. METHODS: A total of 149 patients with Leber's congenital amaurosis (LCA) or early onset retinal dystrophy were screened for mutations in LCA-associated genes using an arrayed-primer extension (APEX) genotyping microarray...

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Source

Identifiers

PMID: 22570351
DOI: 10.1167/iovs.12-9548

Genes

LRAT
RPE

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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