Scientists at Iceland's deCODE Genetics have found the genetic mutation that causes exfoliation glaucoma, a primary cause of blindness in the elderly. A mutation in the LOXL1 gene is apparently the sole cause of the condition, which is a subset of glaucoma. And in a sign of how fast genomics can trigger new screening tests these days, the company says it will start marketing a blood test for the mutation by the end of this year. A therapy to control the gene, though, will take years to develop.
The scientists involved in the study say that they believe the LOXL1 gene triggers the accumulation of elastin polymer fibers in the eye, which causes exfoliation glaucoma. The condition affects up to 20 percent of people over the age of 60 and is resistant to currently used therapies.
"This discovery is remarkable and important because the genetics has led us directly to what appears to be the sole cause of a devastating common disease," said Kari Stefansson, the CEO of deCODE Genetics. The company made the discover by comparing the DNA of 16,000 people that either suffered from glaucoma or were healthy.
- see the press release from deCODE
- here's the article from The Independent
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