ArticleEye (London, England)2020
A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.
Article in Eye (London, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Gene-related retinal detachment in a young Chinese cohort: ACMG/AMP applicability and VUS analysis.International journal of ophthalmology · 2026Article
- Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.Genes · 2025Review
- Caecilian Genomes Reveal the Molecular Basis of Adaptation and Convergent Evolution of Limblessness in Snakes and Caecilians.Molecular biology and evolution · 2023Article
- What Should We Pay More Attention to Marfan Syndrome Expecting Ectopia Lentis: Incidence and Risk Factors of Retinal Manifestations.Journal of personalized medicine · 2023Article
- De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.Investigative ophthalmology & visual science · 2023Article
- Zebrafish: An In Vivo Screening Model to Study Ocular Phenotypes.Translational vision science & technology · 2022Article
- Surgical management of non-syndromic ectopia lentis.International journal of ophthalmology · 2020Article
- Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome.Ophthalmology scienceArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
objectivesFibrillin-1 (FBN1) mutations cause connective tissue dysgenesis the main ocular manifestation being ectopia lentis (EL), which may be syndromic or non-syndromic. We describe a pedigree with a FBN1 mutation causing non-syndromic EL with retinal detachment (RRD) and their management. SUBJECTS/
methodsPatients with familial EL with RRD were invited to participate (vitreoretinopathy branch of Target 5000, the Irish inherited retinal degeneration study). All patients signed full informed consent. The study was approved by the Institutional Review Board of the Mater Hospital, Dublin and abided by the Declaration of Helsinki.
resultsSeven adults were affected with bilateral EL. All subjects had RRD with bilateral non-synchronous RRD in 57%.
conclusionsThe FBN1 variant described herein confers an increased risk of both EL and RRD and can now be upgraded to 'pathogenic' ACMG status.
Indexed as
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.