ArticleInvestigative ophthalmology & visual science2026
Clinical and Surgical Implications of Genotype-Phenotype Correlations in Congenital Ectopia Lentis: A Real-World Cohort Study.
Article in Investigative ophthalmology & visual science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Charting the Phenotypic Landscape of FBN1 Variants in Marfan Syndrome With Ectopia Lentis Through Extreme Phenotype Sampling.Investigative ophthalmology & visual science · 2026Article
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12 authors.
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Abstract
Purpose: To characterize the genetic landscape of congenital ectopia lentis (EL) and assess genotype-phenotype correlations with implications for surgical decision-making. Methods: This retrospective study enrolled patients with congenital EL who presented to Fudan University Eye and ENT Hospital between 2017 and 2025. We performed targeted next-generation sequencing for probands, with candidate variants confirmed by Sanger sequencing. Patients were categorized into FBN1 and non-FBN1 groups. The ocular features and surgical options were compared across genotypes. Results: A total of 497 probands were enrolled. The molecular diagnostic yield was 93.36%, with FBN1 variants accounting for 82.93% and non-FBN1 variants for 10.44%. Compared with FBN1 cases, non-FBN1 patients exhibited higher EL severity (P < 0.001), lower corneal curvature radius (CCR) (P < 0.001), and higher incidence of ocular comorbidities (P < 0.01). Surgically, non-FBN1 patients more often required robust intraocular lens fixation methods than did FBN1 patients (P < 0.001). Within the FBN1 cohort, the DN(Cys+CaB)+HI subgroup exhibited longer axial length (AL) (P < 0.001), thinner central corneal thickness (CCT) (P = 0.015), and a higher proportion of clinically diagnosed Marfan syndrome (P < 0.001) compared with the DN(Others) subgroup. In contrast, the FBN1 DN(Others) subgroup showed comparable AL, CCT, and CCR to the non-FBN1 group (all P > 0.05). No significant difference of ocular biometrics or surgical options were observed within the non-FBN1 group, except for the highest CCR in patients harboring CPAMD8 variants (P = 0.004). Conclusions: Genetic characterization of congenital EL extends beyond diagnosis to inform ocular phenotype variability and surgical decision-making.
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