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Article

Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.

Cornea - 1 Sept 2018

Quiroz-Casian Natalia, Chacon-Camacho Oscar F, Barragan-Arevalo Tania, Nava-Valdez Jessica, Lieberman Esther, Salgado-Medina Acatzin, Navas Alejandro, Graue-Hernandez Enrique O, Zenteno Juan C

Abstract excerpt

PURPOSE: To describe 2 sporadic Mexican patients having congenital bilateral, total sclerocornea, aphakia, and microphthalmia associated with novel mutations in the FOXE3 gene. METHODS: Two affected individuals with congenital bilateral, total sclerocornea, aphakia, and microphthalmia underwent detailed examinations including slit-lamp examination, visual acuity, and intraocular pressure measurements. Ocular...

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Source

Identifiers

PMID: 29878917
DOI: 10.1097/ICO.0000000000001655

Genes

FOXE3

Variants

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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