Marfan syndrome and the eye clinic: from diagnosis to management.

Eye problems in Marfan Syndrome ­ A Review Marfan syndrome (MFS) is an inherited disorder that affects many systems of the body, including the heart, joints, skeleton, skin and eyes. Although the more dangerous problems caused by this are to do with the heart and blood vessels, it is quite often that such patients are first found by eye doctors. They are either seen due to being very short-sighted or with dislocated lenses which can cause major problems in the eye. Eye problems can be managed by regular observation, although they often require surgery. Because eye doctors are often the first to see these patients, they must involve other doctors of different specialities to help in diagnosing and managing important issues these patients may have, especially affecting the heart and major blood vessels. Confirmation of diagnosis is done through genetic testing, which has advanced greatly, finding new mutations which may contribute to this disorder. Genetic counselling services can help families in understanding their diagnosis and making better informed decisions about future family planning as well as screening other family members. The eye is just one part of this complex genetic disease. We look in detail at how eye doctors can best approach such patients.