To help optometrists and other health care practitioners identify Marfan patients, the NMF (National Marfan Foundation) has developed a mobile website, MarfanDX.org, that features the Ghent Nosology for Marfan Syndrome. The nosology, published in 2010 by an international panel of experts in the diagnosis and management of Marfan syndrome, offers seven simple formulas for diagnosing Marfan syndrome. These formulas, along with an Interactive Systemic Score Calculator used to consider the lesser characteristics of Marfan syndrome throughout the body, such as facial features, manifestations in the arms and wrists, and severe myopia, and a Z-score calculator, are available to practitioners on MarfanDX.org. The site offers an interactive scorecard, complete with illustrations and details on each on manifestation.
The program will compute the patient’s Marfan Systemic Score and even provide a means to e-mail the results to a specialist.
Marfan syndrome (also called Marfan’s syndrome) is a potentially fatal, genetic, connective tissue disorder. Most of the readily visible signs of Marfan syndrome are associated with the skeletal system. Many individuals with the condition grow to above-average height. Some have long, slender limbs (dolichostenomelia) with long fingers and toes (arachnodactyly). However, life-threatening aortic tears and ruptures are the most serious aspect of the disease, the foundation emphasized. Eye conditions, including myopia, amblyopia, strabismus, glaucoma and retinal detachments are often early signs of Marfan syndrome. One-third of Marfan patients in a recent NMF survey said a dislocated lens in the eye was the first sign to raise suspicion that they might have the life-threatening health condition. However, only about 20 percent of respondents indicated an ophthalmologist (15 percent) or optometrist (4 percent) was the first person to suspect they might have Marfan syndrome. Read more.
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