Glaucoma can be an insidious disease. It often develops painlessly, robbing its victims of their sight so gradually that they barely notice at first. Conventional wisdom holds that a buildup of pressure in the anterior chamber of the eye causes the vision loss by damaging the optic nerve. But why that pressure increases for the most part remains a mystery. Now, researchers have a new clue to the cause of a common form of the eye disease, one that's particularly tough to treat.
In work published online this week in Science (www.sciencemag.org/cgi/content/abstract/1146554), a team led by Kari Stefansson of deCODE Genetics Inc. in Reykjavik, Iceland, and Fridbert Jonasson of the University of Iceland reports the discovery of a gene variant that confers an extremely high risk of developing exfoliation glaucoma. This form of glaucoma accounts for perhaps as many as 10% of all cases in the United States, yet it responds poorly to the current treatment of eye drops that lower pressure in the eye. The genetic find might lead to better ways to diagnose and prevent the slow descent into blindness. "I think it's a great paper. … People with this glaucoma have a much higher risk of going blind," says Mary Wirtz, an expert in glaucoma genetics at Oregon Health and Science University in Portland.
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