Genetic Testing Resources
Inherited retinal degenerative diseases, like retinitis pigmentosa or Stargardt disease, are caused by one or more mutations in a person's genes. We are now beginning to understand these mutations, and to develop treatments specific to them.
A genetic counsellor is a health professional who can help you understand your eye disease and how it is inherited. By asking you about your family history, they can likely determine the inheritance pattern of your condtion, but with new genetic testing tools, it may be possible for them to give you even more information.
In a few clinics across Canada, it is now possible to be tested to learn the mutation that causes your eye disease. The Canadian Association of Genetic Counsellors offers a listing of the many different types of clinics that do molecular genetic screening at http://cagc-accg.ca (click on Genetic Clinics). Look for clinics that do ocular genetics, general genetics or paediatric genetics - not cancer genetics.
Molecular genetic testing for retinal disease will not be successful in all cases, as many of the genes that cause retinal eye disease have yet to be discovered. However if the mutation that causes your eye disease can be identified, it may provide more information about how your disease will progress and more information about the risk of eye disease for other members of your family. Knowing the gene that causes your eye disease may also be required to be eligible for some types of clinical trials.
For more information about genetic testing see:
- Genetic Testing Fact Sheet (download this fact sheet in PDF format)
- Common Questions about Genetic Testing - a resource created by Joanne Sutherland, a genetic counsellor at the Hospital for Sick Children's occular genetics program.