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Ectopia Lentis Syndrome

What is ectopia lentis syndrome?

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

People with features of ectopia lentis syndrome need to see a doctor who knows about connective tissue disorders for an accurate diagnosis; often this will be a medical geneticist. It is very important that people with familial ectopia lentis get an early and correct diagnosis so they can get the right treatment.

How does ectopia lentis syndrome compare with Marfan syndrome?

A person may be diagnosed with ectopic lentis syndrome when they inherit the skeletal features of Marfan syndrome (e.g., long arms, legs and fingers; tall thin body type; curved spine, etc.) together with lens dislocation of the eye, but have no other Marfan features such as those affecting the heart and blood vessels. Regular monitoring that includes frequent echocardiograms (imaging of the heart and blood vessels) is the only way to tell the difference between Marfan syndrome and ectopia lentis syndrome.

What is lens dislocation?

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. It can only be confirmed by an eye doctor through a special test called a slit-lamp eye examination (after fully dilating the pupil). 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).

What are symptoms of lens dislocation?

Symptoms of lens dislocation include:

  • Nearsightedness (myopia)
  • Astigmatism (blurred vision due to an irregularity in the curvature of the front surface of the eye, the cornea)
  • Fluctuating or blurred vision

To learn more about Ectopia Lentis syndrome and its diagnosis and treatment, download:

Ectopia Lentis syndrome