Genetic Testing

Anyone with an inherited retinal disease, or IRD, should consider genetic testing. Genetic testing can identify the specific gene mutations or variants responsible for your vision loss. With this information, you and your doctor can determine the best course of action and explore whether clinical research or potential treatments may be relevant to you.

If you were tested in the past but did not receive a conclusive result or received a negative result, consider testing again. Genetic tests have improved, and newer tests may reveal additional details about your specific mutations.

Understanding the gene mutations behind your vision loss can also provide important information for your family. More than 300 genes are known to cause IRDs, and more than 300 different variants can cause choroideremia. Access to genetic testing has provided clarity and guidance to many living with these rare eye diseases.

The future holds gene and variant specific therapies. As new treatments and clinical trials become available, information will be posted on ClinicalTrials.gov, a resource for international clinical studies. The more patients and the medical community understand specific gene mutations and variants, the faster clinical trials can progress. For these reasons, everyone with an IRD or suspected IRD is encouraged to pursue genetic testing.

Research begins with recognition. In rare diseases, the journey toward a cure often starts with an accurate diagnosis. The CRF works to raise awareness among physicians so that CHM patients can receive genetic testing and a precise diagnosis.

The Foundation Fighting Blindness offers a no-cost genetic testing program called My Retina Tracker. Any eye care professional in the United States can order testing and provide genetic counseling for patients diagnosed with an inherited retinal disease, including choroideremia.

Genetic testing is provided by PreventionGenetics using a comprehensive IRD panel. Genetic counseling is provided by InformedDNA, specialists who help patients understand their test results and what they mean for them and their families.

Patients can also upload their information to the My Retina Tracker Registry. This helps researchers and therapy developers worldwide, including those recruiting for clinical trials of emerging therapies, to identify potential participants.

Currently, the My Retina Tracker program is only available in the U.S. For international options, visit the National Center for Biotechnology Information website for a comprehensive list of companies offering genetic testing for choroideremia.