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Article

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

Ophthalmology - 1 Aug 2009

Gilmour David F, Downey Louise M, Sheridan Eamonn, Long Vernon, Bradbury John, Inglehearn Chris F, Toomes Carmel

Abstract excerpt

PURPOSE: To describe a patient with DiGeorge syndrome in association with familial exudative vitreoretinopathy (FEVR). DESIGN: Observational case report. PARTICIPANTS: A newborn female and her parents. METHODS: Family members were examined by slit-lamp biomicroscopy and indirect ophthalmoscopy. Deletion mapping was performed by fluorescent in situ hybridization and genotyping. Mutation screening was undertaken by...

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Source

Identifiers

PMID: 19501404
DOI: 10.1016/j.ophtha.2009.02.032

Genes

FZD4
LRP5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?PMID 19501404Read ↗

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