Gene Variants Identified as Having a Role in Macular Degeneration
Age-related macular degeneration can start with blurry or fuzzy vision, or with the weird sense that straight edges—like doorframes or windowsills—actually curve. Eventually, it can lead to a total loss of sharp, central vision, leaving those affected legally blind.
The disease is a leading cause of blindness among the elderly worldwide, affecting more that 15 percent of people aged 65 and older, approximately 150 million people globally. More than 10 million Americans have AMD, more than those who suffer from cataracts and glaucoma combined, according to the American Macular Degeneration Foundation. While some treatments exist, there is currently no way to cure or prevent the disease.
Now, a study has identified 52 common and rare genetic variants distributed across 34 genomic regions—including 13 previously unknown—that play a role in AMD. The findings, published online in Nature Genetics, offer clues to the onset and progression of the disease that may eventually lead to better treatments or a cure.
“We think of these variants as potential targets for new drug development, or biomarkers that could identify people who are at very high risk, so we could potentially intervene early, even before the disease becomes apparent,” says Lindsay A. Farrer, chief of the biomedical genetics section at Boston University School of Medicine (MED). “That’s the hope.”
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