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Article

Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.

Ophthalmic genetics - 1 Dec 1999

Mashima Y G, Weleber R G, Kennaway N G, Inana G

Abstract excerpt

Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA. We identified the E318K mutation in the OAT gene, heterozygously in three patients and homozygously in one patient, all of whom were vitamin B6-responsive by previous in vivo...

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

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Source

Identifiers

PMID: 10617919
DOI: 10.1076/opge.20.4.219.2271

Genes

OAT

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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Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.PMID 10617919Read ↗

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Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.Semantic proximity Read ↗

Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.Semantic proximity Read ↗

Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.Semantic proximity Read ↗

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