Scientists Identify Mutant Gene Linked to Blindness

Researchers said Thursday they had linked the leading cause of blindness in the elderly to a gene mutation, raising hopes of earlier detection and possible treatment.

Fifteen million Americans have age-related macular degeneration and that number is expected to double as baby boomers age. Being able to relate a gene mutation to the likelihood of developing the illness may lead to better tests and eventually treatments, the researchers said Thursday.

“I don’t think it’s going to be a year or two ... but I’d guess less than 10 years” before a treatment might become available, said Albert O. Edwards, the lead researcher for one of three sets of researchers reporting on the link.

Macular degeneration causes the central region of the eye’s retina to deteriorate, damaging or destroying vision. For now, there are no broadly effective treatments, though a recently approved drug can slow the disease for some patients.

The gene findings are reported in separate papers in this week’s online issue of the journal Science. The three research groups were led by Edwards, at the University of Texas Southwestern Medical Center, Josephine Hoh of Yale University School of Medicine and Margaret A. Pericak-Vance of Duke University Medical Center.

“Overall, this is a significant and novel finding,” said Radha Ayyagari, a research investigator at the University of Michigan Kellogg Eye Center who studies age-related macular degeneration.

Though one mutated gene is not the only factor in macular degeneration, the discovery “is an important finding and will help in identifying individuals at risk, provide information to design future therapies [and] understand the process of degeneration,” said Ayyagari, who was not part of any of the three research teams.

The teams studied the genes of patients with age-related macular degeneration and others without the disease.

Researchers found that people with a variation in the CFH gene were more likely to have the illness.