Marfan Syndrome and the Eyes

About Marfan Syndrome

Marfan syndrome is a genetic condition that affects the strength of connective tissues in the body. Connective tissues provide a framework that hold our bodies together. Marfan syndrome is caused by a change in a gene called FBN1 that creates problems in a protein called fibrillin-1. Fibrillin-1 is an important part of our connective tissue. Because connective tissue is found throughout the body, patients with Marfan syndrome can have problems with bones, joints, eyes, heart, blood vessels, nervous system, skin and lungs.

Three out of every 4 people with Marfan syndrome inherit the condition from a parent with the disease. One out of 4 people with Marfan syndrome have a new change or mutation in the FBN1 gene, meaning that no one else in their family has Marfan syndrome. Genetic testing for Marfan syndrome is available. Patients should see a genetic specialist for testing if Marfan syndrome is suspected.

Marfan syndrome can occur in girls or boys and in children of any ethnicity. It is estimated to occur in 1 in 5,000 people.

Eye conditions and Marfan syndrome

Many patients with Marfan syndrome will have a condition called ectopia lentis. Ectopia lentis is a shift in the location of the lens inside the eye. The lens is a clear structure in the eye which helps the eye focus. 

In ectopia lentis, the lens moves from its normal, centered location in the eye so that the person is not looking through the center of their lens. The condition usually develops very slowly. This dislocation is caused by weakness in the connective tissue that holds the lens in place (zonules). Ectopia lentis occurs in roughly 60% of people with Marfan syndrome. Patients with ectopia lentis will have changes in their glasses prescription. Some patients will need surgery to correct the lens placement.

Patients with Marfan syndrome have a higher chance of having certain eye conditions. Many people with Marfan syndrome will need glasses because they will develop myopia (nearsightedness) or have astigmatism (abnormal curvature of the eye). Patients with Marfan syndrome may also have a higher chance of developing cataracts, glaucoma, strabismus and retinal detachment. 

It is important that patients with Marfan syndrome be seen by their primary care physicians and be evaluated by a heart specialist because the most serious problems associated with the Marfan syndrome involve the heart and blood vessels.