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Understand genetic testing
Inherited retinal diseases (also called inherited retinal dystrophies, or IRDs) are a group of rare eye disorders caused by an inherited gene mutation and can result in vision loss or blindness. Common IRDs include retinitis pigmentosa (RP), choroideremia (CHM), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD) and juvenile macular degeneration (JMD). Stargardt disease is the most common form of inherited juvenile macular degeneration.
There are more than 260 genes known to cause these inherited retinal conditions, and the availability of genetic testing has opened doors and brought information and clarity to those living with one of these rare eye diseases.
With research efforts intensifying, it is more critical than ever to speak with your doctor about genetic testing. Today there are more than 100 recruiting, enrolling or active clinical studies for inherited retinal diseases on clinicaltrials.gov, the national resource housing information on all clinical studies across the country.
If you were previously tested more than five years ago and you didn’t receive a conclusive result – or any result at all – think about getting tested again. Genetic tests have improved, research is advancing, and a person may learn more from a newer test, especially with the identification of new genes.
Knowledge is power, and the more patients and the medical community know about specific gene mutations, the faster clinical trials may progress.
Because of this, everyone with an IRD should declare “Eye Want 2 Know” and pursue genetic testing. Identifying and understanding the changes in your genes (mutations) that are responsible for vision loss is the first step in opening up new possibilities for yourself and your family. These benefits include:
Providing you and your family with more information to help you better manage your IRD
Determining with your doctor the best management plan for your IRD
Connecting with others in the community or joining IRD-specific advocacy groups
Focusing your search for gene therapy clinical trials or natural history studies – now, or in the future
Complex science. straightforward process.
The science behind genetic testing may be deeply complicated, but the testing procedure itself can be relatively simple.
An exam with a retinal or IRD specialist provides you with important baseline information about your disease. It could also generate a clinical diagnosis, if you don’t have one already, which may help narrow the search for your mutated gene.
Even if you’ve met with a genetic counselor before, you may want to do so again because science is always changing. A genetic counselor can help you understand the importance of identifying the genetic cause of your disease.
Once your doctor orders the test, he or she will collect a saliva or blood sample and send it off to the genetic testing lab. To provide a blood sample, expect the same kind of simple blood draw that is done for any other kind of common blood test.
It can take several months to receive the results from your genetic test. Discussing the results with a genetic counselor or a health care professional will provide you the insight needed to determine your next steps.