Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis

作者：Qiuyi Huo, Rui-Zheng Zhang, Wan‐Nan Jia, Yalei Wang, Xin Shen, Xinyao Chen, Tian-Hui Chen, Yan Liu, Linghao Song, Xinyue Wang, Yong Lv, Ze‐Xu Chen, Yongxiang Jiang · 发表于：Investigative Ophthalmology & Visual Science · 年份：2025 · DOI：10.1167/iovs.66.3.23 · 被引用次数：7 · 研究领域：Connective tissue disorders research、Intraocular Surgery and Lenses、Corneal surgery and disorders

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 pat...