Scientists have identified a gene that is "strongly associated" with
a person's risk for developing age-related macular degeneration
(AMD). The finding was made by three independent teams, which include
researchers with the National Eye Institute and other leading research
centers. Detecting an AMD-associated gene may lead to early detection
and new strategies for prevention and treatment for the debilitating
AMD blurs or destroys sharp, central vision. There is no known
cure. Most scientists think the cause lies in an interplay of hereditary
and environmental factors. It is the leading cause of blindness
in people over age 60.
Family history of AMD is a risk factor for the disease. In recent
years, eye researchers have been investigating certain portions
of chromosomes to find AMD-associated genes. The new studies provide
the strongest evidence yet of a specific gene association.
"The three studies are a significant step in AMD research. They
confirm a strong genetic component of AMD, which may allow scientists
to develop tests for the disease before symptoms begin to appear
and when therapies might help slow its progress," said NEI director
Dr. Paul Sieving.
The three studies used different methods to screen the genomes
from different groups of AMD patients. Yet all three studies came
up with a commonly inherited variant of the same gene, called complement
factor H (CFH). The CFH gene is responsible for a protein that
helps regulate inflammation in part of the immune system that attacks
diseased and damaged cells. In some patients with AMD, inflammation
in the eyes may trigger a biological process leading to the disease.