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Article

Charting the Phenotypic Landscape of FBN1 Variants in Marfan Syndrome With Ectopia Lentis Through Extreme Phenotype Sampling.

Investigative ophthalmology & visual science - 1 Sept 2026

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

Abstract excerpt

Purpose: Phenotypic heterogeneity is a hallmark of Marfan syndrome (MFS) with ectopia lentis (EL), yet genotype-phenotype correlations for ocular traits remain incompletely understood. This study aimed to identify genomic determinants of extreme ocular phenotypes using a combined phenotype-first and genotype-first analytical strategy. Methods: A two-stage discovery-validation genotype-phenotype association study...

Read the complete abstract on PubMed

Topics

Humans
Marfan Syndrome
Fibrillin-1
Ectopia Lentis
Female
Adipokines

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Male

Retrospective Studies

Adult

Genetic Association Studies

Genotype

Prospective Studies

Adolescent

Young Adult

Mutation

Middle Aged

Child

Source

Open in PubMed Open full text

Identifiers

PMID: 42747260
DOI: 10.1167/iovs.67.11.29
PMCID: PMC13589406

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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