Article
Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.
Molecular vision - 29 Nov 2007
Pepe Guglielmina, Lapini Ilaria, Evangelisti Lucia, Attanasio Monica, Giusti Betti, Lucarini Laura, Fattori Rossella, Pellicanò Giannantonio, Scrivanti Mario, Porciani Maria Cristina, Abbate Rosanna, Gensini Gian Franco
Abstract excerpt
PURPOSE: Ectopia lentis (EL) and Marfan syndrome (MFS) are considered two distinct clinical entities. We performed genetic and clinical studies to investigate whether EL is actually distinct from MFS or if it is a mild phenotypic expression of it. METHODS: Seven patients with EL were followed for 5-10 years. Mutation screening analysis of the 65 exons of FBN1 was performed by polymerase chain reaction (PCR)...
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