Post by Ms. Kathy on Jun 17, 2004 17:14:39 GMT -6
Marfan’s Syndrome
Marfan's syndrome is a disorder inherited in an autosomal dominant fashion (i.e., one-half of children in the family are affected). Characteristics of this disorder include abnormally long and disproportionate extremities, long fingers, joint laxity, pectus excavatum (depression in the sternum of the chest), scoliosis (a distortion or curvature of the spine to one side), and dilation of the aorta (largest artery from the heart). The latter condition may result in an abnormality of the aortic valve of the heart, known as aortic insufficiency. This is best characterized as a "leaky" valve leading to a reduction of cardiac output and backward flow of blood into the heart. Death may result from a dissecting aortic aneurysm, a condition in which the layers of the aorta begin to separate from one another.
With regard to the eye in Marfan's syndrome, many patients will have high myopia (extreme nearsightedness) due to a very long eye. The lens of the eye often dislocates slowly upward or in an up and outward direction within the eye. This may result in sudden, and sometimes drastic, reduction in vision. Some patients may have double vision as the lens progressively dislocates. Retinal detachment is common in such long eyes, and glaucoma is not uncommonly present, even in very young patients.
Patients with Marfan's syndrome should be evaluated by an ophthalmologist as soon as the diagnosis is made, and routinely thereafter. In patients who develop symptomatic lens dislocation, every attempt is usually made to rehabilitate the eye by refractive means (i.e., glasses or contact lenses). Some patients with lens dislocation may require surgery. This is dependent on the location (within the eye) of the dislocated lens.
www.eyemdlink.com
Marfan's syndrome is a disorder inherited in an autosomal dominant fashion (i.e., one-half of children in the family are affected). Characteristics of this disorder include abnormally long and disproportionate extremities, long fingers, joint laxity, pectus excavatum (depression in the sternum of the chest), scoliosis (a distortion or curvature of the spine to one side), and dilation of the aorta (largest artery from the heart). The latter condition may result in an abnormality of the aortic valve of the heart, known as aortic insufficiency. This is best characterized as a "leaky" valve leading to a reduction of cardiac output and backward flow of blood into the heart. Death may result from a dissecting aortic aneurysm, a condition in which the layers of the aorta begin to separate from one another.
With regard to the eye in Marfan's syndrome, many patients will have high myopia (extreme nearsightedness) due to a very long eye. The lens of the eye often dislocates slowly upward or in an up and outward direction within the eye. This may result in sudden, and sometimes drastic, reduction in vision. Some patients may have double vision as the lens progressively dislocates. Retinal detachment is common in such long eyes, and glaucoma is not uncommonly present, even in very young patients.
Patients with Marfan's syndrome should be evaluated by an ophthalmologist as soon as the diagnosis is made, and routinely thereafter. In patients who develop symptomatic lens dislocation, every attempt is usually made to rehabilitate the eye by refractive means (i.e., glasses or contact lenses). Some patients with lens dislocation may require surgery. This is dependent on the location (within the eye) of the dislocated lens.
www.eyemdlink.com