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Clinical and Surgical Implications of Genotype-Phenotype Correlations in Congenital Ectopia Lentis: A Real-World Cohort Study.

Investigative ophthalmology & visual science - 1 May 2026

Jia Wan-Nan, Chen Ze-Xu, Shen Xin, Wang Ya-Lei, Chen Xin-Yao, Xiao Yan-Bo, Li Lin-Zhao, Huo Qiu-Yi, Zhang Yu-Lin, Chen Tian-Hui, Zhang Min, Jiang Yong-Xiang

Abstract excerpt

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...

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Identifiers

PMID: 42126156
DOI: 10.1167/iovs.67.5.27
PMCID: PMC13182860

Genes

FBN1
CPAMD8

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

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