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Article

Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

Ophthalmic genetics - 1 Mar 2009

Robitaille Johane M, Wallace Karin, Zheng Binyou, Beis M Jill, Samuels Mark, Hoskin-Mott Ann, Guernsey Duane L

Abstract excerpt

PURPOSE: To describe a severe familial exudative vitreoretinopathy (FEVR) phenotype seen in infancy that resembles persistent fetal vasculature (PFV) caused by mutations in the FZD4 gene in two pedigrees with high intrafamilial variability. METHODS: Three infants presented with features compatible with bilateral PFV. Eye examinations from the affected children and their relatives were reviewed retrospectively...

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Source

Identifiers

PMID: 19172507
DOI: 10.1080/13816810802464312

Genes

FZD4
LRP5
NDP

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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