One of the leading causes of vision impairment is age-related macular degeneration (AMD). Research to be published in an upcoming issue of the journal Nature Genetics indicates that a genetic mutation could be responsible for some cases of AMD.
Experts at Tufts Medical Center, Tufts University School of Medicine, and Brigham and Women’s Hospital have identified a specific gene mutation, known as CFH R1210C, that directly correlates to an increased risk of the disease. The mutation is rare, is uncommon in those without AMD, and is related to earlier onset of AMD. Researchers from Massachusetts General Hospital and Johns Hopkins University also collaborated on the studies.
Dr. Soumya Raychaudhuri, a researcher in the Divisions of Genetics and Rheumatology at Brigham and Women’s Hospital, said, “Our paper shows that there is a genetic variant that confers high risk of the development of AMD; this finding not only clearly links CFH gene dysfunction to disease, but also might help to identify people who need to be screened more closely.”
Dr. Johanna Seddon, professor of ophthalmology at Tufts University School of Medicine and director of the Ophthalmic Epidemiology and Genetics Service at Tufts Medical Center, added, “The discovery of this rare but penetrant variant strongly associated with disease also points the way to developing new and effective treatments for high risk individuals.”
Dr. Mario Garrett, a professor of gerontology at San Diego State University, reminds us that AMD is not the only cause of vision impairment. We can’t forget about cataracts, diabetic retinopathy, glaucoma, and others. He also reminds us that, in many cases, full blindness can be prevented by early detection and treatment.
On the website Sign On San Diego, Dr. Garrett writes,
National studies indicate that vision loss is associated with diabetes, heart disease, stroke, death, falls and injuries, depression and social isolation. It also compromises our quality of life because it diminishes our ability to read, drive, walk, watch entertainment and participate actively in visual art. Eventually vision loss and blindness isolates us from others.
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Image by Roman Pavlyuk (b0r0da), used under its Creative Commons license.
