ArticleJournal of ophthalmology2020
Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases.
Article in Journal of ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The trial behind it
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Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- Concurrent Wagner syndrome and retinopathy of prematurity.American journal of ophthalmology case reports · 2025Article
- Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system.Scientific reports · 2025Article
- Refractive Status and Biometric Characteristics of Children With Familial Exudative Vitreoretinopathy.Investigative ophthalmology & visual science · 2023Article
- Retinopathy of prematurity: contribution of inflammatory and genetic factors.Molecular and cellular biochemistry · 2022Review
- Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.BMC ophthalmology · 2022Article
- Exploration of Hub Genes in Retinopathy of Prematurity Based on Bioinformatics Analysis of the Oxygen-Induced Retinopathy Model.Journal of ophthalmology · 2022Article
- Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy.International journal of ophthalmology · 2022Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe have observed that some preterm infants whose fundus appears very similar to eyes with familial exudative vitreoretinopathy (FEVR) present with atypical retinopathy of prematurity (ROP). To establish a definitive diagnosis and explore the possible genetic mechanism of atypical ROP, we performed gene sequencing of these cases using next-generation sequencing technology.
methodsA retrospective review of infants who presented with atypical ROP from October 2013 to February 2017 was performed. The data included gender, gestational age at birth, birth weight, family history, systemic disorders, and age-appropriate ophthalmic examinations. Fundus fluorescein angiography (FFA) of the parents was also performed. Peripheral blood was collected from the patients and their parents to sequence genes. Gene mutations were analysed.
resultsGenetic testing revealed that 9 infants had FEVR-related disease-causing gene mutations. Nine gene mutations were detected; 5 had already been reported, and the other 4 were novel. In the 18 eyes of these 9 patients, 9 eyes exhibited severe ROP. 5 cases had a positive family history.
conclusionsGene mutations of low-density-lipoprotein receptor-related protein 5(
Identifiers
What OpenQuestion holds
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.