After searching for more than a decade, scientists have isolated a gene for a disease that usually blinds the men who have a defective form of the gene by age 30. The condition is a particularly severe form of retinitis pigmentosa, which affects some 100,000 Americans. The defective gene causes one of the most common forms of retinitis pigmentosa, accounting for about 10 percent to 20 percent of all cases.
The discovered gene, RP3 might be able to help researchers create treatments. RP3 is one of three genes known to be on the X chromosome that cause the severe form of retinitis pigmentosa, which hits hardest in men. Mutations in the newly found gene cause about 70 percent of these severe cases. The two other genes have yet to be isolated.
Boys with a defect in one of these genes have difficulty seeing at night and develop tunnel vision. No cure for the condition is known, and the men usually become blind before middle age. After scientists better understand the normal function of the gene, they might be able to devise treatments for the disease, Dr. Wright said. Scientists should be able to devise a test to detect RP3 mutations, he added.
This kind of research is extremely important because researchers will now be able to find more ways to help those who suffer from colorblindness.