Ocular Signs in Marfan Syndrome: A Case Report

Abstract

Marfan Syndrome is an autosomal dominant disease with a highly variable systemic tissue disorder affecting the cardiovascular, musculoskeletal, and ocular system [1]. It is the second most common inherited connective tissue disorder with an estimated incidence of 1 in 5000 around the world [2]. The gene (FBN1) encoding the connective tissue protein fibrillin-1 is seen mutated in most patients with Marfan Syndrome. Fibrillin-1, a glycoprotein, is an important component of both elastic and non elastic tissues. It also contributes to the formation of microfibrils and the extracellular matrix [3].