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Article

Familial peripheral keratopathy without PAX6 mutation.

Cornea - 1 Feb 2012

Smith Wendy M, Lange Julie M, Sturm Amy C, Tanner Stephan M, Mauger Thomas F

Abstract excerpt

PURPOSE: To describe the clinical features of a familial abnormality of the corneal stem cells and to investigate the role of PAX6 mutations in the affected family members. METHODS: A family with multiple generations of peripheral keratopathy was evaluated. Because of the corneal phenotypic similarity to aniridia-related keratopathy, it was hypothesized that the affected patients might have a dominantly inherited...

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Source

Identifiers

PMID: 22146551
DOI: 10.1097/ICO.0b013e3182222779

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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