What Is Marfan Syndrome?
Marfan syndrome is a genetic, usually inherited disorder of the body’s connective tissue. It is present at birth, yet the features are not necessarily immediately present. Marfan syndrome can affect the heart and blood vessels, skeletal system, eyes, and other parts of the body.
People with Marfan syndrome are often nearsighted, and lens dislocation of one or both eyes is common.
According to Marfan.org, visible signs of the syndrome include long arms; a tall, thin body type; curved spine; chest that caves in or out; flexible joints; crowded teeth; and stretch marks unrelated to weight change. Other signs include heart problems, large blood vessel that carries blood away from the heart and a sudden collapsed lung.
How Is Marfan Syndrome Diagnosed?
As several characteristics of Marfan syndrome are identified, a team of medical professionals will begin to piece together the puzzle and diagnose the individual. Genetic testing is also available to confirm a diagnosis of Marfan or a related disorder.
A dilated eye examination will be important for diagnosing visual issues related to Marfan. The ophthalmologist will look for slipped lenses and will also check for possible complications such as cataracts, glaucoma, or a detached retina.
Are There Treatments for Marfan Syndrome?
There is currently no cure for Marfan syndrome. Medications, surgery, limited physical activity, and therapies may be recommended for treatment of medical issues associated with Marfan.
There is usually no treatment for a dislocated visual lens or nearsightedness; however, glasses or contact lenses will likely correct the eyesight.
How Would You Describe the Eyesight of One with Marfan Syndrome and How Will My Child Function with It?
Your child’s vision will likely be fully correctable with eyeglasses or contact lenses. If your child’s vision is not fully correctable, particularly when additional visual issues are present (such as retinal detachment or glaucoma), a teacher of students with visual impairments should perform a functional vision assessment to determine how your child uses remaining vision and a learning media assessment to determine which senses your child primarily uses to get information from the environment. These assessments, along with an orientation and mobility assessment conducted by a mobility specialist, will give the team information needed to make specific recommendations for your child to best access learning material and his or her environment.
You may learn your child has difficulty recognizing faces and facial expressions, accessing information from a distance, identifying small images or letters on paper, or traveling safely. If this is the case, your child may benefit from travel training from the mobility specialist, increased contrast of the environment, increased contrast of print by using a CCTV or screen-magnification software, and increased room and task lighting. Your child may also benefit from assistive technology to more easily write, read, use the computer, and access information and techniques and additional accommodations to perform activities with limited vision.
Your child may also be taught to complete tasks without the use of vision. Your child may be taught braille, use of screen-reading software to use the computer, and other techniques for performing life skills and academic tasks as taught by the teacher of students with visual impairments.
Resources for Families of Children with Marfan Syndrome