ArticleInvestigative ophthalmology & visual science2021
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.
Article in Investigative ophthalmology & visual science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 26 citations in OpenAlex.
- Morphological and Functional Alterations in the Mouse Retina After Sodium Fluorescein Administration.Translational vision science & technology · 2026Article
- Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygousJournal of medical genetics · 2026Article
- Case Report: Occult ocular toxocariasis revealed during vitrectomy in a child with chronic vitritis and vitreoretinal traction.Frontiers in medicine · 2026Article
- Review
- Concurrent Wagner syndrome and retinopathy of prematurity.American journal of ophthalmology case reports · 2025Article
- Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.Investigative ophthalmology & visual science · 2025Article
- Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.Investigative ophthalmology & visual science · 2025Article
- Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.Investigative ophthalmology & visual science · 2024Article
- Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.Human genomics · 2024Article
- Case report: exome sequencing identified mutations in theFrontiers in endocrinology · 2024Article
- Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.Translational vision science & technology · 2023Article
- Pattern of choroidal thickness in early-onset high myopia.Frontiers in medicine · 2023Article
- Commentary: Familial exudative vitreoretinopathy-The masquerade in pediatric retinal disorders.Indian journal of ophthalmology · 2022Article
- Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.Molecular vision · 2022Article
- Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations inJournal of vitreoretinal diseasesArticle
- Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.Ophthalmology scienceArticle
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To investigate the clinical findings in Chinese patients diagnosed with familial exudative vitreoretinopathy (FEVR) and carrying pathogenic mutations. Methods: One hundred twenty unrelated patients with FEVR were enrolled in this study. Genomic DNA and ophthalmic examinations were collected from all the patients and their available relatives. Targeted next-generation sequencing was performed to detect mutations. In silico programs were used to evaluate the pathogenicity of all the mutations. Results: Eighty identified mutations were found in 81 unrelated patients (31/81 in LRP5, 25/81 in FZD4, 12/81 in TSPAN12, 8/81 in NDP, 4/81 in KIF11, and 1/81 in ZNF408). Among those mutations, 53 were novel (23/35 in LRP5, 15/21 in FZD4, 8/11 in TSPAN12, 3/8 in NDP, 3/4 in KIF11, 1/1 in ZNF408). Patients with LRP5, FZD4, TSPAN12, or NDP mutations were mainly classified into stage 4 and stage 5 and one-half of patients with KIF11 mutations were in stage 4. In addition, all the patients in NDP group were found to have bilateral symmetry in FEVR stage. Conclusions: Our results present profound phenotypic variability and a wide mutation spectrum of FEVR in the Chinese population, which could be useful for a precise and comprehensive genetic diagnosis for patients with FEVR in the future.
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