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Article

Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation.

Ophthalmic genetics - 1 Mar 2015

Khan Arif O, Aldahmesh Mohammed A, Noor Jawaher, Salem Ahmed, Alkuraya Fowzan S

Abstract excerpt

OBJECTIVE: To describe a unique lens subluxation phenotype in a child from a consanguineous family and to determine its genetic basis. METHODS: Ophthalmologic examination (including ocular biometry and electroretinography [ERG] for the proband) and autozygosity-analysis-guided exome sequencing for the family; confirmatory candidate gene sequencing in the family and ethnically matched controls. RESULTS: An...

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Source

Identifiers

PMID: 24001013
DOI: 10.3109/13816810.2013.827217

Genes

VSX2
ERG

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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