Marfan syndrome - Systemic and Ocular features
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Marfan syndrome is one of the most common inheritable genetic defects with a prevalence of around 1 in 5000 population. It is an Autosomal Dominant (AD) connective tissue disorder, with basic defect (mutation) in the gene named fibrillin 1 (FBN1), the gene that is responsible for production of fibrillin, which is a glycoprotein responsible for providing elastic strength and stability to tissues.The condition is present at birth, but may not be diagnosed until a person is a teenager or young adul...
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