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Article

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.

American journal of ophthalmology - 1 Dec 2004

Vincent Marie-Claire, Gallai Raffaella, Olivier David, Speeg-Schatz Claude, Flament Jacques, Calvas Patrick, Dollfus Hélène

Abstract excerpt

PURPOSE: Several ocular defects have been identified as a consequence of the PAX6 gene mutations. With regard to the implication of this gene in unusual phenotypes, we report a family presenting with congenital nystagmus, foveal hypoplasia, and iris hypoplasia or atypical coloboma. DESIGN: Observational case report. METHODS: The entire transcribed region of the PAX6 gene was submitted to mutation search at the...

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Identifiers

PMID: 15629294
DOI: 10.1016/j.ajo.2004.08.003

Genes

PAX6

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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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