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Article

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

European journal of human genetics : EJHG - 1 Mar 2014

Thomas Shery, Thomas Mervyn G, Andrews Caroline, Chan Wai-Man, Proudlock Frank A, McLean Rebecca J, Pradeep Archana, Engle Elizabeth C, Gottlob Irene

Abstract excerpt

Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An...

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Source

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Identifiers

PMID: 23942204
DOI: 10.1038/ejhg.2013.162
PMCID: PMC3925285

Genes

PAX6

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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