Researchers in Iceland and Sweden have discovered genetic flaws that underlie pseudoexfoliative glaucoma, a form of glaucoma common in those of Scandinavian descent. Their finding may provide a basis for devising new treatments.
The finding is part of a continuing wave of discoveries about the genes underlying common diseases that began earlier this year as researchers reported the first results using a new device — DNA-scanning chips containing information on up to 500,000 genetically variable sites across the human genome.
By comparing the genomes of patients with those of people in good health, researchers can identify which of the variable sites are associated with the disease and so locate the causative genes. In the last few months, studies using whole genome association have identified genes or genetic elements involved in at least 10 major diseases.
The finding on glaucoma, reported last month in the journal Science, is from researchers at the National University Hospital in Reykjavik, Iceland, and Uppsala University in Sweden. By studying 16,000 patients in Iceland and Sweden, the researchers have identified two variant sites on the genome that indicate risk for exfoliative glaucoma. This form of glaucoma can occur when fibers of connective tissue break off into the fluid-filled front chamber of the eye and block the drainage channels through which the fluid circulates, resulting in damage to the optic nerve.
Paul R. Lichter, MD, director of the Kellogg Eye Center at the University of Michigan, called the research “very impressive.” If patients with higher genetic risk could be identified with a simple diagnostic test, “maybe we would look at those patients more carefully,” he said.
Source: The New York Times
