ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2018
The characteristics of digenic familial exudative vitreoretinopathy.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2018. 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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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- Clinical and Multimodal Imaging Features of Familial Exudative Vitreoretinopathy: The Genetic and Phenotypic Spectrum.Clinical ophthalmology (Auckland, N.Z.) · 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
- Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.JAMA network open · 2024Article
- Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy.The Journal of international medical research · 2023Article
- Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.Annals of medicine · 2022Article
- FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.Investigative ophthalmology & visual science · 2022Article
- Article
- Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.Orphanet journal of rare diseases · 2022Article
- Decrease ofFrontiers in medicine · 2022Article
- Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.Investigative ophthalmology & visual science · 2021Article
- Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Article
- Article
- Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases.Journal of ophthalmology · 2020Article
- Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.Ophthalmology scienceArticle
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo describe and analyse the clinical and genetic characteristics of digenic familial exudative vitreoretinopathy (FEVR).
methodsThe study cohort consisted of patients with FEVR (n = 13) to identify patients with two mutations in two different genes. A genetic analysis of the LRP5, FZD4, TSPAN12, and ZNF408 genes was performed with next-generation sequencing (NGS). The genotype data obtained from the patients with FEVR were analysed and correlated with their clinical manifestations. They were then further evaluated in conjunction with other data that were available for these genes. The probands and parents/relatives underwent comprehensive age-appropriate ophthalmic examinations.
resultsThe medical history and genetic reports of 487 patients with FEVR were reviewed. In all, we identified 13 probands (2.67%, 13/487) with simultaneous mutations in two disease-causing genes. A total of 25 of mutations were found, including10 in FZD4, 8 in LRP5, 3 in ZNF408, 2 in NDP, and 2 in TSPAN12. The most frequent mutations were those in FZD4 and LRP5. We identified 8 mutations that had previously been identified and 17 novel variants. Among 26 eyes, 65.38% exhibited a phenotype, and 10 (38.46%) were stage 4, while 7 (26.92%) were stage 5.
conclusionsThis is the first study to report a group of patients with digenic FEVR. In most affected eyes, the stage was more severe than stage 3. We speculate that the phenotype of FEVR is more severe in patients with digenic rather than monogenic variants of FEVR-related genes.
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