SynthesisPloS one2022
Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals.
Synthesis in PloS one, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Outcomes of vitreoretinal surgery for familial exudative vitreoretinopathy: a systematic review and meta-analysis of the current literature.International ophthalmology · 2026Pooled it
- Surgical outcomes of familial exudative vitreoretinopathy-associated retinal detachment: a systematic review and meta-analysis.International journal of retina and vitreous · 2026Review
- Complex Retinal Detachment in an Adult Patient With Familial Exudative Vitreoretinopathy: Challenges in Diagnosis and Management.Journal of vitreoretinal diseases · 2026Article
- A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).Scientific reports · 2026Article
- Clinical and Multimodal Imaging Features of Familial Exudative Vitreoretinopathy: The Genetic and Phenotypic Spectrum.Clinical ophthalmology (Auckland, N.Z.) · 2026Article
- Article
- Bilateral tractional retinal detachments complicating hemolytic-uremic syndrome.American journal of ophthalmology case reports · 2025Article
- Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management.Clinical & experimental ophthalmology · 2025Review
- Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.Acta ophthalmologica · 2025Article
- Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.Investigative ophthalmology & visual science · 2025Article
- Multimodal imaging of white preretinal lesions in atypical familial exudative vitreoretinopathy: Case report and literature review.American journal of ophthalmology case reports · 2024Article
- Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy.The Journal of international medical research · 2023Article
- Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.Orthopedic research and reviews · 2023Article
- Five novel pathogenicAdvances in ophthalmology practice and researchArticle
- Genotypic Distribution and Clinical Correlations in Familial Exudative Vitreoretinopathy: A Single-Center Study.Ophthalmology scienceArticle
- Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations inJournal of vitreoretinal diseasesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo systematically review the relationship between genotypes and clinical phenotypes of Familial exudative vitreoretinopathy (FEVR) to support risk estimation and therapeutic decisions.
designSystematic review with meta-analysis. DATA SOURCES: The data of our study were collected from PubMed, Embase, Web of Science, Cochrane, CBM, China National Knowledge Infrastructure (CNKI), WAN FANG and VIP databases since inception to August 2021.
resultsA total of 3257 patients from 32 studies were included according to the inclusion and exclusion criteria. Among all the cases, the mutation frequencies of LRP5, FZD4, NDP, TSPAN12, ZNF408 and KIF11 were 13.6%, 11.5%, 4.6%, 6.7%, 1.6%, and 5.7%, respectively. We found that the patients with NDP and FZD4 suffer more severe symptoms, among which 86.4% patients of NDP and 78.6% patients of FZD4 were in the advanced stage of FEVR. Retinal detachment is the most frequent symptom with patients of LRP5 and NDP mutations, accounting for 51.9% and 64.5%, respectively. For the patients with the mutation of TSPAN12, retinal fold is the most common clinical manifestation, and suffer the mildest clinical phenotypes compared with the other three genes.
conclusionThe results of the meta-analysis indicate that different types of genetic mutations occur at different frequencies. In addition, the clinical manifestations of FEVR are related to the type of gene mutation. Therefore, targeted treatment strategies and follow-up recommendations should be adopted for different pathogenic genes of FEVR.
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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.