Superior and Inferior Lens Subluxation in a Patient of Marfan Syndrome: A Rare Case Presentation
Journal Title: INTERNATIONAL JOURNAL OF SCIENTIFIC STUDY - Year 2017, Vol 5, Issue 1
Abstract
Marfan syndrome (MFS) is a spectrum of disorders caused by a heritable genetic defect of connective tissue involving the musculoskeletal, cardiac, and ocular system predominately. The defect itself has been isolated to the fibrillin1 (FBN1) gene on chromosome 15, which codes for the connective tissue protein FBN. Aortic root dilatation and ectopia lentis are the cardinal clinical features. In the absence of family history, the presence of these two manifestations is sufficient for confirmatory diagnosis of MFS. There’s no cure for MFS, so treatment focuses on managing the symptoms and reducing the risk of complications. Recent advances in diagnosis, improved surgical technique and application of prophylaxis has contributed in the preservation of sight in patients.
Authors and Affiliations
Navreet Kaur
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