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Article

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.

Ophthalmic genetics - 1 Aug 2018

Cui Xuan, Jauregui Ruben, Park Karen Sophia, Tsang Stephen H

Abstract excerpt

PURPOSE: Gyrate atrophy (GA) is a rare chorioretinal degeneration that results in the deterioration of night and peripheral vision, eventually leading to blindness. The disorder is caused by mutations in the gene encoding ornithine aminotransferase (OAT), causing increased levels of plasma ornithine. Treatment revolves around lowering plasma ornithine levels, with vitamin B6 supplementation being the preferred...

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Source

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Identifiers

PMID: 29757052
DOI: 10.1080/13816810.2018.1474370
PMCID: PMC6121715

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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