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Article

Mutational analysis of the OA1 gene in ocular albinism.

Ophthalmic genetics - 1 Sept 2003

Camand Olivier, Boutboul Sandrine, Arbogast Laurence, Roche Olivier, Sternberg Claude, Sutherland Joanne, Levin Alex, Héon Elise, Menasche Maurice, Dufier Jean, Abitbol Marc

Abstract excerpt

Ocular albinism type 1 (OA1) is an X-linked disorder, mainly characterized by a severe reduction in visual acuity, foveal hypoplasia, nystagmus, hypopigmentation of the retina, the presence of macromelanosomes in the skin and eyes, and the misrouting of optic pathways, resulting in the loss of st...

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Source

Identifiers

PMID: 12868035
DOI: 10.1076/opge.24.3.167.15605

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12868035-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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