Article
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
The British journal of ophthalmology - 1 Dec 2002
Comeglio P, Evans A L, Brice G, Cooling R J, Child A H
Abstract excerpt
BACKGROUND: Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant phenotype linked to...
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