ArticleAnnals of medicine2022
Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.
Article in Annals of medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- FTO-modulated mJournal of translational medicine · 2026Article
- A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).Scientific reports · 2026Article
- Retinal vascularization from a new angle: A systematic review of temporal retinal vessel angles in familial exudative vitreoretinopathy.Retina (Philadelphia, Pa.) · 2025Article
- Article
- 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
- FEVR combined with macular heterotopia in children presenting as pseudo-exotropia: a case report and literature review.Frontiers in medicine · 2024Article
- Review
- Optical Coherence Tomography and Optical Coherence Tomography Angiography in Pediatric Retinal Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- Article
- Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.Orthopedic research and reviews · 2023Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo explore the clinical manifestations and search for the variants of six related genes ( PATIENTS AND
methodsClinical data, including the retinal artery angle, acquired from wide-field fundus imaging, structural and microvascular features of the retina obtained from optical coherence tomography (OCT) and OCT angiography (OCTA) were collected from 33 pedigrees. Furthermore, mutation screening was performed. Variants filtering, bioinformatics analysis and Sanger sequencing were conducted to verify the variants.
resultsTwenty-one variants were successfully detected in 16 of 33 families, of which 10 variants were newly identified. The proportion of variants in
conclusionsSix known pathogenic genes were screened in 33 pedigrees with FEVR in our study, which revealed 10 novel variants. These findings enrich the clinical features and mutation spectrum in Chinese patients with FEVR, revealing the genotype-phenotype relationship, and contributing to the diagnosis and treatment of the disease.Key messagesWe identified 21 variants in 5 genes (
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.