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 vessels
problems 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).
What are the Key Features of Ectopia Lentis Syndrome?
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 of
features is called ectopia lentis syndrome.
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Eyes, Head and Neck
- 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
Getting Diagnosed with Ectopia Lentis Syndrome
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.
What Causes 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.
How is Ectopia Lentis Syndrome Managed?
Ectopia lentis syndrome may be treated in several ways:
- Blurred vision caused by lens dislocation can be corrected with glasses or contact lenses (special flat contacts may be required for proper correction).
- The use of aphakic (refracting around the lens) glasses, in combination with Atropine sulfate 1% ophthalmic drops to enlarge the pupil, serve as an effective alternative to surgery.
- In severe cases, the lens of the eye may need to be removed. Every effort should be made to avoid surgery until absolutely necessary to achieve adequate vision because of potential complications of surgery. Artificial lenses can be placed in the eye after lens removal once growth is near complete.