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Article

PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?

Clinical & experimental ophthalmology - 1 Dec 2013

Peter Neena M, Leyland Martin, Mudhar Hardeep S, Lowndes Jo, Owen Katharine R, Stewart Helen

Abstract excerpt

BACKGROUND: We report a family with ptosis, cataract, iris hypoplasia and gradual corneal opacification occurring in association with a PAX6 mutation. DESIGN: Case-series. PARTICIPANTS: Fourteen family members - 8 affected, 6 unaffected controls. METHODS: All participants underwent ophthalmological assessment, including best-corrected visual acuity, slit-lamp-examination, pachymetry, endothelial cell-count,...

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Source

Identifiers

PMID: 23566044
DOI: 10.1111/ceo.12109

Genes

PAX6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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