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Article

Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.

Ophthalmology - 1 Apr 2001

Peltola K E, Näntö-Salonen K, Heinonen O J, Jääskeläinen S, Heinänen K, Simell O, Nikoskelainen E

Abstract excerpt

OBJECTIVE/PURPOSE: To investigate clinical variation in a genetically homogenous group of subjects with gyrate atrophy of choroid and retina with hyperornithinemia (GA). The group was made up of homozygotes and compound heterozygotes for mutation L402P in the ornithine aminotransferase (OAT) gene. DESIGN: Cross-sectional study. PARTICIPANTS: Thirty-five Finnish subjects (18 men) with GA with a mean age of 33...

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Identifiers

PMID: 11297489
DOI: 10.1016/s0161-6420(00)00587-x

Genes

ERG
OAT

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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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