Novel variant c.428T>C in FZD4 gene in a pedigree affected by familial exudative vitreoretinopathy: clinical, functional, and structural characterization

Jia-Horung Hung; Quan Dong Nguyen; Chao‐Kai Hsu; Yao-Tsung Chang; Woei-Jer Chuang; P. W. Lin; Yu-Shan Chang; Yi-Zih Kuo; Suan Hwang; Zheng Xian Thng; Amir Akhavanrezayat; Azadeh Mobasserian; S. Saeed Mohammadi; Woong-Sun Yoo; Osama Elaraby; Dalia El Feky; Ankur Gupta; Paul Yang; Li‐Wha Wu

doi:10.1080/13816810.2026.2657429

Key Points

The central aim is to characterize a novel FZD4 gene variant linked to familial exudative vitreoretinopathy (FEVR).
Conducted a family-based study examining clinical characteristics of affected individuals.
Identified and characterized the novel missense variant in FZD4 gene.
Provided genetic and structural evidence for the variant's pathogenic relevance.
Identified a novel missense variant c.428T>C in the FZD4 gene.
Surgical management improved stabilization of visual outcomes in associated conditions like angle-closure glaucoma.
Integrated evidence supports the pathogenic significance of the identified variant.

Implication

Family-based study identifies a novel missense variant in FZD4 linked to visual outcomes in exudative vitreoretinopathy, suggesting potential interventions.

Abstract

This family-based study identifies a novel FZD4 missense variant associated with FEVR and provides integrated clinical, genetic, functional, and structural evidence, supporting its likely pathogenic relevance. Surgical management of secondary complications, such as angle-closure glaucoma, might stabilize visual outcomes in patients with FZD4-associated FEVR.

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Cite This Study

Hung et al. (2026) studied this question.

synapsesocial.com/papers/69e1cffa5cdc762e9d859121 https://doi.org/10.1080/13816810.2026.2657429

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Novel variant c.428T>C in FZD4 gene in a pedigree affected by familial exudative vitreoretinopathy: clinical, functional, and structural characterization

Key Points

Implication

Abstract

Discussion

Cite This Study

Novel variant c.428T>C in FZD4 gene in a pedigree affected by familial exudative vitreoretinopathy: clinical, functional, and structural characterization

Key Points

Implication

Abstract

Discussion

Cite This Study

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