Marfan syndrome is an inherited connective tissue disorder caused by changes in the FBN1 gene. Since connective tissue occurs throughout the body, the disease affects several organ systems, including the skeleton, the cardiovascular system, and the eyes. About 1 in 5,000 people is affected. For eye health, Marfan syndrome is particularly significant, as it can affect numerous structures of the eye.
Marfan syndrome is inherited in an autosomal dominant manner: a single altered copy of the FBN1 gene is enough to trigger the disease. Children of an affected parent therefore have a risk of 50%. In about a quarter of cases, however, the gene change occurs spontaneously, without a parent being affected.
The most common and most characteristic eye manifestation is the displacement of the eye's lens. In about 60% of those affected, the fine fibers (zonular fibers) that hold the lens in position loosen, so that it slips out of its normal position. This leads to blurred vision and can require surgical removal of the lens with implantation of an artificial lens.
Pronounced nearsightedness is very common in Marfan syndrome and arises from the elongated eye growth and the changes to the lens. The correction is done with glasses or contact lenses.
In addition to the eyes, the following can be affected:
The diagnosis is made on the basis of clinical criteria (the so-called Ghent criteria) and a genetic test. Eye findings such as lens displacement play an important role. Because the disease is very variable, it can present quite differently within a family.
Patients with Marfan syndrome need close ophthalmological monitoring:
Thanks to modern monitoring and therapy, the life expectancy of people with Marfan syndrome has risen significantly today and averages around 70 years. An early diagnosis and consistent follow-up are the key to a good quality of life.