ArticleMolecular vision2013
Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.
Article in Molecular vision, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 52 citations in OpenAlex.
- Review
- Concurrent Wagner syndrome and retinopathy of prematurity.American journal of ophthalmology case reports · 2025Article
- Refractive Status and Biometric Characteristics of Children With Familial Exudative Vitreoretinopathy.Investigative ophthalmology & visual science · 2023Article
- Review
- Latest Trends in Retinopathy of Prematurity: Research on Risk Factors, Diagnostic Methods and Therapies.International journal of general medicine · 2023Review
- SZN-413, a FZD4 Agonist, as a Potential Novel Therapeutic for the Treatment of Diabetic Retinopathy.Translational vision science & technology · 2022Article
- Hedgehog Signal Defect Leading to Familial Exudative Vitreoretinopathy-Like Disease and Gastrointestinal Malformation.Turkish journal of ophthalmology · 2022Article
- Retinopathy of prematurity: contribution of inflammatory and genetic factors.Molecular and cellular biochemistry · 2022Review
- Foveal hypoplasia and characteristics of optical components in patients with familial exudative vitreoretinopathy and retinopathy of prematurity.Scientific reports · 2022Article
- Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.BMC ophthalmology · 2022Article
- Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.Investigative ophthalmology & visual science · 2021Article
- Aggressive posterior retinopathy of prematurity: a review on current understanding.Eye (London, England) · 2021Review
- Retinopathy of prematurity treatment: Asian perspectives.Eye (London, England) · 2020Review
- Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases.Journal of ophthalmology · 2020Article
- Familial exudative retinopathyAmerican journal of ophthalmology case reports · 2019Article
- The genetics of retinopathy of prematurity: a model for neovascular retinal disease.Ophthalmology. Retina · 2018Article
- Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.International journal of molecular medicine · 2018Article
- Abnormal Complement Activation and Inflammation in the Pathogenesis of Retinopathy of Prematurity.Frontiers in immunology · 2017Article
- Fzd4 Haploinsufficiency Delays Retinal Revascularization in the Mouse Model of Oxygen Induced Retinopathy.PloS one · 2016Article
- Wnt signaling pathway in retinal vascularization.Eye and brain · 2016Review
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Authors and funding
6 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeRetinopathy of prematurity (ROP) is a complex disease with a genetic predisposition, but little is known about its genetic background. It has a clinical resemblance to familial exudative vitreoretinopathy (FEVR), a hereditary disease characterized by defects in the development of retinal vessels. Several studies have suggested that mutations in the causative genes for FEVR may account for a proportion of advanced ROP, but conflicting data have also been reported for some variants. To address the possibility of genetic involvement of FEVR genes in ROP, we performed comprehensive sequence analyses of 53 Japanese patients with advanced ROP for the FEVR-causing genes.
methodsPeripheral blood DNA was obtained from 53 patients referred to our hospitals for retinal surgery. Polymerase chain reaction followed by direct sequencing of the coding regions of the known FEVR-causing genes (FZD4, LRP5, TSPAN12, and NDP) and a noncoding exon of the NDP gene was performed. Possible pathogenicity of the sequence changes were analyzed by orthologous protein sequence alignment and by computational predictions.
resultsWe identified six different nonsynonymous DNA variants in the coding region of either the FZD4 gene (p.H69Y, p.R127H, and p.Y211H) or the LRP5 gene (p.R1219H, p.H1383P, and p.T1540M) in seven patients. The corresponding codons of these changes were highly conserved among species, and these changes were predicted to be pathogenic by at least two of four computational prediction programs. No such changes were found in the TSPAN12 and NDP genes.
conclusionsSix possibly pathogenic variants of FZD4 or LRP5 were found in seven advanced ROP patients. Although these variants do not yet provide definitive evidence that they are causal, the results imply a role of the FZD4 and LRP5 genes in the development of advanced ROP.
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23441120PMC3580992W2145681827What OpenQuestion holds
Registered trials
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