Fred Clough, Sonia Szamocki, Alex Ferdi, Andrew Coombes
Cite as: BUJO 2013;1:bujo.2013.003 | Published: 15 July 2013
Marfan's syndrome (MFS) is an autosomal dominant connective tissue disorder where ophthalmic problems are often the presenting symptom in childhood. Diagnosis is based on established criteria outlined by expert opinion in 1996, known as the Ghent criteria. These criteria have recently been revised, and place more weight on two cardinal features of MFS: ophthalmological and cardiovascular pathology. Ophthalmologists thus have a prominent role to play in both diagnosis and lifelong care for MFS patients. This article aims to outline the presentations of ocular pathology and diagnostic challenges for aspiring ophthalmologists who will be key members of the multi-disciplinary team in future. In light of the revised Ghent classification, ophthalmology trainees must have a low threshold for investigation of a suspected MFS patient with a working knowledge of the diagnostic criteria. This will allow prompt correction of the sight threatening complications of MFS and early initiation of long- term monitoring of the life-threatening cardiovascular complications.
Keywords: marfan's, ghent nosology, ectopic lentis, marfanoid habitus, pathological myopia