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Article

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.

Molecular vision - 30 Mar 2010

Anjum Iram, Eiberg Hans, Baig Shahid Mahmood, Tommerup Niels, Hansen Lars

Abstract excerpt

PURPOSE: Aphakia is the complete absence of any lens in the eye, either due to surgical removal of the lens as a result of a perforating wound or ulcer, or due to a congenital anomaly. The purpose of this study was to elucidate the molecular genetics for a large consanguineous Pakistani family with a clear aphakia phenotype. METHODS: The initial homozygosity screening of the family was extended to all the known...

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Source

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Identifiers

PMID: 20361012
PMCID: PMC2846847

Genes

FOXE3

Variants

Provenance

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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