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

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.