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

Investigative ophthalmology & visual science - 3 Mar 2025

Huo Qiu-Yi, Zhang Rui-Zheng, Jia Wan-Nan, Wang Ya-Lei, Shen Xin, Chen Xin-Yao, Chen Tian-Hui, Liu Yan, Song Ling-Hao, Wang Xinyue, Lv Yong, Chen Ze-Xu, Jiang Yong-Xiang

Abstract excerpt

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....

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Identifiers

PMID: 40062814
DOI: 10.1167/iovs.66.3.23
PMCID: PMC11905578

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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