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Individuals with Marfan syndrome often manifest secondary ocular complications, such as retinal detachment, as seen in this patient.
Photo: Carlo J. Pelino, O.D.
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Optometrists must become increasingly familiar with the early signs and symptoms of Marfan syndrome, according to a survey conducted by the National Marfan Foundation (NMF).
Marfan syndrome, a potentially fatal connective tissue disorder, may lead to aortic tear or rupture if not properly detected and surgically managed early on in a patient’s lifetime.
“Early diagnosis is critical so that patients can take medications to lower their heart rate and blood pressure, make lifestyle adaptations (no competitive or contact sports) and have their aorta monitored so they can have surgery before a potentially fatal tear or rupture,” says Irene Maumenee, M.D., a member of NMF’s professional advisory board and director of ophthalmic genetics at the University of Illinois Eye and Ear Infirmary.
To better understand the patterns of diagnosis and detection, the NMF surveyed 1,369 patients with Marfan syndrome. While 70% of respondents reported that at least one health care provider had positively identified their disease by age 20, just 4% of those polled said an optometrist was the first individual to suspect an underlying condition.
“The [associated] eye issues, which also include myopia, amblyopia, strabismus, glaucoma and retinal detachments, are often early signs of the condition and can certainly impact quality of life; however, they should also raise a red flag that something potentially more serious is going on,” adds Dr. Maumenee. “Ophthalmologists and optometrists are key to early diagnosis because parents do not hesitate to bring their children in if there is a potential sight problem. I encourage eye doctors to be aware of the ocular signs of Marfan syndrome, as well as the other outward physical signs, so they can refer a patient for further evaluation, if needed.”