CHICAGO, June 10 (UPI) -- Researchers have identified a genetic mutation that causes a severe form of glaucoma in children, and are already working on a method for treating it.
A genetic mutation causing a vessel that drains fluid from the eye to be defective or missing causes the condition, researchers at Northwestern University and the University of Wisconsin report in a recent study.
Primary genetic glaucoma accounts for 50-70 percent of all cases of childhood glaucoma, which occurs in one out of 8,000 children born, typically starting sometime between birth and age 3, according to the Glaucoma Research Foundation.
In a previous study, researchers at Northwestern found the form of glaucoma occurs in mice because of a mutation to the gene TEK. The gene, involved with the formation of Schlemm's canal, prevents fluid from draining out of the front portion of the eye, causing pressure that damages optic nerves and eventually causes vision loss.
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Researchers at the University of Wisconsin had identified the mutation in patients, and later meetings with ophthalmologists and geneticists revealed the mutation was common in patients with the severe form of glaucoma.
"It was more than coincidental," Dr. Susan Quaggin, chief of nephrology and hypertension at Northwestern University's school of medicine and Northwestern Memorial Hospital, said in a press release. "Our meeting led to collaborations with ophthalmologists and geneticists from around the world who identified more mutations in this gene in children with this form of glaucoma. It was one of those eureka moments that sometimes happens in science."
For the study, published in the Journal of Clinical Investigation, researchers identified TEK mutations in 10 unrelated patients out of 189 identified with primary congenital glaucoma.
The researchers found that while some patients had other genetic mutations known to cause glaucoma, the 10 they identified had no other mutations that cause the progressive vision condition.
While they say they are unsure how other genetic mutations cause the disease, researchers say they understand how the TEK mutation causes it and are already working on an eye drop that repairs the pathway allowing the eye to drain properly.
"This work shows us how a genetic mutation causes a severe form of glaucoma called primary congenital glaucoma, which afflicts a significant portion of children enrolled in institutions for the blind worldwide," Quaggin said.
