The science of genetics is expanding rapidly. New techniques are available to locate disease-causing genes on each of the 23 pairs of chromosomes, to isolate and study these genes and to determine their mutations. Retinal degeneration researchers have already located and characterized some of the genes that cause these diseases and continually search for others. In medicine, genetic research has the greatest impact so far in testing for retinal degenerations. As more retinal degeneration genes are identified, new gene-based tests are being developed.
Genetic tests allow for faster and more accurate diagnosis.
Early discovery of a retinal degeneration can lead to earlier use of known treatments that may slow the disease. For example, if a doctor knows that a patient has an altered gene, he or she may suggest that the patient start taking vitamin A palmitate. If a child were at a significant risk for a retinal degeneration, earlier diagnosis of the condition could mean earlier interventions, such as evaluation of the benefit of low vision aids, school adaptations, or orientation and mobility training. Although the use of genetic testing allows the diagnosis of these diseases, treatments that cure retinal degenerations are still not available. Continued genetic research will lead the way to future treatments, especially in the development of gene therapy for retinal diseases.