Ectopia Lentis Syndrome vs. Marfan

Ectopia Lentis Syndrome is an inherited connective tissue condition that shares some of the features of Marfan syndrome – particularly lens dislocation of the eye, which can cause serious vision problems.

People with ectopia lentis syndrome do not have the heart and blood vesselsproblems associated with Marfan syndrome.

The lens is the transparent structure inside the eye that focuses light rays onto the retina (the nerve layer that lines the back of the eye, senses light, and creates impulses that go through the optic nerve to the brain). Lens dislocation is when the lens is a bit off-center to completely floating. Lens dislocation may lead to the more serious complication of retinal detachment (when the membrane in the back of eye separates from its supporting layers).

Dislocation of the lens of the eye (ectopia lentis) is the predominant feature that passes from generation to generation. Sometimes, this occurs along with some of the skeletal (bone and joint) features of Marfan syndrome. This combination offeatures is called ectopia lentis syndrome.

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Eyes, Head and Neck

The diagnosis of ectopia lentis syndrome is made by an ophthalmologist using a slit lamp exam (after fully dilating the pupil). Anyone suspected of having ectopia lentis syndrome should have a comprehensive evaluation by a geneticist and cardiologist to exclude the diagnosis of Marfan syndrome.

There is a dominant and recessive form of ectopia lentis. An ophthalmologist can often distinguish between dominant and recessive ectopia lentis based upon family history and physical findings. However, gene testing is available for both dominant and recessive ectopia lentis syndrome.

The most common cause of ectopia lentis syndrome is a change in the FBN1 (fibrillin-1) gene, the same gene that causes Marfan syndrome. In some families, ectopia lentis is passed down as a dominant trait; that is, a child only needs to inherit a single abnormal copy of the gene from an affected parent to have the condition. Less commonly, ectopia lentis syndrome can be inherited as a recessive trait; that is, a child needs to inherit an abnormal copy of the defective gene from both parents. In this circumstance, the parents are unaffected because each has one normal copy of the gene in question.

Recessive ectopia lentis is not associated with a risk for vascular disease. Two genes have been associated with recessive familial ectopia lentis syndrome: ADAMTSL4 and LTBP2.

Ectopia lentis syndrome may be treated in several ways:

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Overview of Ocular Management

Quality of Life

PhysicalActivity Guidelines

View fact sheets, ask a question, even connect with other caregivers to get all the information and support you need to care for someone living with ectopia lentis syndrome.

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