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Article

A novel variant in the FZD4 gene leading to familial exudative vitreoretinopathy: A case report and literature review.

Medicine - 7 Nov 2025

Yang Bihong, Zhou Lixing, Ye Chunhong, Wang Chunjuan, Lan Xiaofang, Liu Weihao, Chen Penglong, Liu Jiao

Abstract excerpt

RATIONALE: Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal vascular disorder. This report describes a novel frizzled class receptor 4 (FZD4) gene mutation (c.977C>T) identified in a FEVR pedigree and highlights its phenotypic variability and clinical management. PATIENT CONCERNS: A neonatal proband was referred for routine RetCam III fundus screening on postnatal day 3. No...

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Identifiers

PMID: 41204464
DOI: 10.1097/MD.0000000000045894
PMCID: PMC12599743

Genes

FZD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A novel variant in the FZD4 gene leading to familial exudative vitreoretinopathy: A case report and literature review.PMID 41204464Read ↗

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