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Researchers have identified one of the genes involved in the most common form of adult-onset glaucoma, which affects more than 67 million people worldwide, and is the second largest cause of blindness in the world.

Tayebeh Rezaie from the University of Connecticut Health Center and colleagues isolated the gene in individuals with a hereditary form of the disease, so it isn’t yet clear whether mutations in the gene play a role in all forms of adult-onset glaucoma.

But the findings — reported in the 8 February issue of Science — should provide insight into the molecular basis of the disease, which leads to a gradual loss of peripheral vision. The gene could also be a useful tool in screening for the disease, the researchers say.

“This is the second gene for chronic adult-onset glaucoma to be identified,” says one of the researchers, Roger Hitchings of Moorfields Eye Hospital, London. “We are on the way to building a portfolio of genes that will account for the pattern of inheritance of glaucoma.”

But others stress that this is just a small step in the long road to genetic screening. “The potential for genetic screening for glaucoma exists but is still a long way from being a reality since each candidate and true gene will account for such a small proportion of affected individuals,” says Ian Murdoch, a glaucoma specialist from the UK-based International Centre for Eye Health.

And, in developing countries, where more than 80 per cent of glaucoma suffers live, the impact of any new screening process would be limited due to a lack of resources and people’s reluctance to come forward for testing, says Debbie Sagar, of the charity Sight Savers International.

“In developing countries generally, identifying people with the disease is extremely difficult, as people tend not to go forward for the routine eye tests that can help pick the disease up in its early stages,” she says.

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