ArticleInvestigative ophthalmology & visual science2024
Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families.
Article in Investigative ophthalmology & visual science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 16 citations in OpenAlex.
- Identification of Novel and RecurrentMolecular syndromology · 2026Article
- 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
- Deep Proteomic Analysis With Machine Learning Identifies Aqueous Humor Biomarkers of ADAMTSL4-associated Congenital Ectopia Lentis.Investigative ophthalmology & visual science · 2026Article
- Clinical Features and Surgical Outcomes of Cats With Presumed Primary Lens Instability: A Retrospective Study of 34 Cases (2018-2022).Veterinary ophthalmology · 2026Article
- Clinical and Surgical Implications of Genotype-Phenotype Correlations in Congenital Ectopia Lentis: A Real-World Cohort Study.Investigative ophthalmology & visual science · 2026Article
- Method for Generation of adamtsl4 Knock-Out Zebrafish Lines Using CRRISPR/Cas9 System.Methods in molecular biology (Clifton, N.J.) · 2026Article
- A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.Scientific reports · 2025Article
- Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.European journal of human genetics : EJHG · 2025Article
- Advanced Artificial-Intelligence-Based Jiang Formula for Intraocular Lens Power in Congenital Ectopia Lentis.Translational vision science & technology · 2025Article
- Review
- Amelioration of Fibrosis via S1P Inhibition Is Regulated by Inactivation of TGF-β and SPL Pathways in the Human Cornea.International journal of molecular sciences · 2024Article
- Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.Journal of translational medicine · 2024Article
- Early Visual, Refractive, and Astigmatism Vector Outcomes of StreamLight Trans-PRK for High Astigmatism (≥ 2.00 D).Romanian journal of ophthalmologyArticle
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To extend the mutation spectrum and explore the characteristics of genotypes and ocular phenotypes in ectopia lentis (EL). Methods: Variants in all 14 reported EL-associated genes were selected from in-house data sets as well as literature review, and available clinical data were analyzed. Results: Likely pathogenic variants in three genes were identified in 156 unrelated families with EL from the in-house cohort, of which 97.4% resulted from variants in FBN1, whereas the remaining were caused by variants in ADAMTSL4 (1.3%) and LTBP2 (1.3%). A comparative analysis of the in-house data and literature review suggested several characteristics: (1) a higher proportion of cysteine involvement variants in FBN1, either variants introducing or eliminating cysteine, and an earlier diagnosis age were presented in our cohort than in published literature; (2) the axial length (AL) and refractive error increased more rapidly with age in preschool EL children than normal children, and the increased rate of AL was slower in patients with surgery than those without surgery; (3) aberrant astigmatism was common in EL; and (4) worse vision and earlier onset age were observed in patients with non-FBN1 variants (all P < 0.05). Conclusions: Variants in FBN1 are the predominant cause of EL, with the most common cysteine involvement variants. Early-stage EL manifests refractive error but gradually converts to axial myopia through defocus introduced by lens dislocation. Aberrant astigmatism is a suggestive sign of EL. Non-FBN1 variants cause early-onset and severe phenotypes. These results provide evidence for early diagnosis as well as timely treatment for EL.
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