Marfan's Syndrome

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Marfan’s Syndrome
By
Sixto Del Angel
People with Marfan’s Syndrome are typically tall, with long limbs and long
thin fingers. The most serious complication of this condition affects the heart
valves and orta. It may affect lungs, eyes, the spinal cord, skeleton and the
hard palate.
How it Affects the Eye
More than half of all people with Marfan’s Syndrome experience
dislocation of one or both lenses of the eye. The lenses may be slightly
higher or lower than normal and may be shifted off to one side.
Detachment of the retina is a possible serious complication of this
disorder. Many people with Marfan’s Syndrome are also nearsighted
(myopic) and some can develop early glaucoma (high pressure within
the eye) or cataracts.
Treatments
A person with Marfan’s Syndrome is born with the disorder, even
though it may not be diagnosed until later in life. There is no cure for
this syndrome because scientists may have to identify and change the
gene responsible for the disorder before birth. However, a range of
treatment options can minimize and sometimes prevent
complications. The appropriate specialists will develop an individual
plan according to the body system affected. A patient may be referred
to a cardiologist, orthopaedist ( bone doctor), ophthalmologist and in
some cases to a geneticist.
Educational Implications
It is important for parents to know that nothing that they did caused
the fibrillin gene to mutate. Some children with Marfan’s Syndrome
are asked to restrict their activities. This may required a lifestyle
adjustment that may be hard for a child to understand or accept.
While Marfan’s Syndrome is a lifelong condition the outlook has
improved in recent years. Life expectancy is similar to that of an
average person if early identification of risk factors allow doctors to
intervene and prevent or delayed complications.
This is a picture of how the lense is dislocated inside the eye.
References
“Marfan’s Syndrome.” Dictionary of Eye Terminology
Gainesville, Florida. Triad Publishing Company.
Hall, Amanda Lueck. Functional Vision: A Practitioner’s Guide
To Evaluation and Intervention. New york, NY: American
Foundation for the Blind, 2004.
Marfan Syndrome From A- Z. The National Marfan Foundation.
Baltimore, MD, 2008.
http://www.medicinenet.com/marfan_syndrome/article.htm
http://www.americanheart.org/presenter.jhtml?identifier=4672
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