ArticleInvestigative ophthalmology & visual science2025
Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.
Article in Investigative ophthalmology & visual science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07096622 (Efficacy of Visual and Perceptual Training on Visual Function for Operative Congenital Ectopia Lentis Children), which is not on this map. Cited by 7 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.
Efficacy of Visual and Perceptual Training on Visual Function for Operative Congenital Ectopia Lentis Children: A Randomized Controlled Clinical Trial
Who cites it
7 citing papers in PubMed.
- Novel findings of corneal neural features in FBN1-related marfan syndrome.International ophthalmology · 2026Article
- Charting the Phenotypic Landscape of FBN1 Variants in Marfan Syndrome With Ectopia Lentis Through Extreme Phenotype Sampling.Investigative ophthalmology & visual science · 2026Article
- Chiral Nanoparticles Suppress Inflammatory Infiltration to Promote Extracellular Matrix Remodeling for Ectopia Lentis Therapy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Clinical and Surgical Implications of Genotype-Phenotype Correlations in Congenital Ectopia Lentis: A Real-World Cohort Study.Investigative ophthalmology & visual science · 2026Article
- Could the Phenotypic Outcomes of Genetic Variability in Cells Operating in Mechanically Dynamic Environments be Influenced by a Disrupted "Cell-ECM" Relationship? Using Cystic Fibrosis and Marfan Syndrome as an Example.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.Journal of translational medicine · 2025Article
- Gene polymorphisms associated with corneal curvature, astigmatism and its vector components in children.Eye and vision (London, England) · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: We investigated the corneal biomechanical properties and their genotype-phenotype correlation correlations in patients with Marfan syndrome (MFS) and ectopia lentis (EL). Methods: Patients with MFS with EL underwent panel-based next-generation sequencing in this retrospective cohort study. The FBN1 genotypes were categorized into the dominant-negative (DN) group and the haploinsufficiency (HI) group. The DN variants were further subclassified based on the affected residues and their locations. Corneal biomechanical parameters were measured using dynamic Scheimpflug-based biomechanical analysis (CorVis ST). The correlations between corneal biomechanical properties and FBN1 genotype or nongenetic factors were analyzed. The differences between patients with MFS and normal control were also evaluated after matching confounding factors. Results: One hundred one consecutive MFS probands participated in this study, with a median age of 6 years. Patients with HI and DN variants affecting critical residues, namely the DN (-Cys + CaB) variants, exhibited significantly higher deformation amplitude ratios (P = 0.029) and lower stress-strain index values (P = 0.007) compared with those in the DN (others) group, indicating lower corneal stiffness in the former group. DN variants in the FUN-EGF3 region were associated with lower deformation amplitude ratios (P = 0.011) and higher stress-strain index values (P = 0.002), whereas those in the DN-CD region exhibited the opposite pattern. Compromised corneal stiffness was significantly associated with HI and DN (-Cys + CaB) variants (b = -0.184; P = 0.01) and variants located outside the FUN-EGF3 region (b = 0.256; P = 0.001), after adjusting for confounding factors. Compared with matched controls, patients with MFS demonstrated significantly higher deformation amplitude ratios (P = 0.023), further confirming decreased corneal stiffness in this population. Conclusions: The FBN1 genotype impacts the corneal biomechanical properties of patients with MFS and EL. Corneal biomechanics provide a novel platform to study the genotype-phenotype correlation of MFS.
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.