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Marfan Syndrome (Symptoms (About 60 percent of individuals who have Marfan…
Marfan Syndrome
Symptoms
About 60 percent of individuals who have Marfan syndrome have lens displacement from the center of the pupil (ectopia lentis).
Individuals who have Marfan syndrome also have an increased risk for retinal detachment, glaucoma and early cataract formation.
The most common symptom of Marfan syndrome is myopia (nearsightedness from the increased curve of the retina due to connective tissue changes in the globe of the eye).
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Treatment
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Treated by a multidisciplinary medical team that includes a geneticist, cardiologist, ophthalmologist, orthopedist and cardiothoracic surgeon.
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Surgery to repair the aorta is done when the aortic diameter is greater than 5 mm in adults and older children, when the aortic diameter increases by 1.0 mm per year, or when there is progressive aortic regurgitation.
What is Marfan Syndrome
autosomal dominant condition occurring once in every 10,000 to 20,000 individuals.
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Marfan syndrome is caused by mutations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of physical features ranging from isolated features of Marfan syndrome to a severe and rapidly progressive form in newborns.