Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.

Abstract excerpt

BACKGROUND: Marfan syndrome (MFS) patients exhibit diverse ocular phenotypes with distinct genetic and prognostic characteristics, posing significant challenges for clinical management, especially in pediatric patients. This study aimed to identify clinically meaningful subtypes of MFS based on ocular phenotypes using unsupervised clustering and to explore their associated genetic characteristics and prognostic...

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