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Article

The clinical and genetic profiles, management, and treatment outcomes of familial exudative vitreoretinopathy.

Survey of ophthalmology - 1 Jan 2026

Tao Le-Ran, Zhang Wen-Fei, Chen Ya-Ning, Wang Zi-Cheng, Zhao Xin-Yu, Liu Sheng-Zhi

Abstract excerpt

Our meta-analysis of 99 studies (463 patients) clarifies key controversies in familial exudative vitreoretinopathy. We found that nearly half of patients are asymptomatic at diagnosis, underscoring the need for early screening in at-risk individuals. Pathogenic mutations (most commonly in FZD4, LRP5, NDP) were identified in 43% of cases. Critically, treatment analysis suggests that combination therapy (laser plus...

Read the complete abstract on PubMed

Topics

Humans
Familial Exudative Vitreoretinopathies
Low Density Lipoprotein Receptor-Related Protein-5
Retinal Diseases
Vitrectomy
Frizzled Receptors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Treatment Outcome

Mutation

Eye Diseases, Hereditary

Angiogenesis Inhibitors

Eye Proteins

Source

Identifiers

PMID: 42097232
DOI: 10.1016/j.survophthal.2026.05.004

Genes

FZD4
LRP5
NDP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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