ArticleOphthalmology science
Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Article in Ophthalmology science. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Early Clinical Manifestations and Visual Prognosis of Japanese Patients with Norrie Disease: A Case Series and Literature Review.Journal of clinical medicine · 2026Article
- The CAPA framework: a conceptual model integrating corrective and preventive strategies for retinal ischemia and neovascularization.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Review
- Predicting mild familial exudative vitreoretinopathy with autosomal dominant inheritance using deep learning.Scientific reports · 2026Article
- Comparisons of Genetic and Clinical Findings in Patients with Syndromic to Non-Syndromic Familial Exudative Vitreoretinopathy.International journal of molecular sciences · 2026Article
- KIF11 prevents retinal endothelial ferroptosis in familial exudative vitreoretinopathy by inhibiting phosphorylation-driven PRDX1 phase separation.Nature communications · 2026Article
- A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).Scientific reports · 2026Article
- Case Report: Expanding theFrontiers in pediatrics · 2026Article
- Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.Investigative ophthalmology & visual science · 2025Article
- Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.International journal of molecular sciences · 2024Article
- Genotypic Distribution and Clinical Correlations in Familial Exudative Vitreoretinopathy: A Single-Center Study.Ophthalmology scienceArticle
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Authors and funding
11 authors.
Funding
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Abstract
Purpose: To determine the clinical characteristics of familial exudative vitreoretinopathy (FEVR) associated with or without pathogenic variants of the Norrin/β-catenin genes. Design: This was a multicenter, cross-sectional, observational, and genetic study. Subjects: Two-hundred eighty-one probands with FEVR were studied. Methods: Whole-exome sequence and/or Sanger sequence was performed for the Norrin/β-catenin genes, the Main Outcome Measures: The phenotype associated with or without pathogenic variants of the Norrin/β-catenin genes. Results: One-hundred eight probands (38.4%) had 88 different pathogenic or likely pathogenic variants in the genes: 24 with the Conclusions: The results showed that the clinical characteristics of FEVR of patients with variants in the Norrin/β-catenin genes are different from those with other etiologies. We recommend that clinicians who diagnose a child with FEVR perform genetic testing so that the parents can be informed on the prognosis of the vision and general health in the child. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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