Anyone with an inherited retinal disease (IRD) should consider genetic testing. Genetic testing may be able to identify the mutated gene (or genes) responsible for your vision loss. Armed with this important information, you and your doctor can then determine the best course of action for your disease and discuss how the newest advances in research that might apply to you. You won’t know if you’re a candidate for gene therapy clinical trials, or any potential gene therapy treatments, until you know your genetic mutation. Once you know your gene, you can also participate in natural history studies or other studies that help researchers advance treatments.
The best way to confirm a diagnosis of LCA, or another genetic retinal disease, is with genetic testing to identify the gene mutation that caused it. There are 27 confirmed genes associated with LCA alone and a mutation in just one of them can cause blindness. Testing is easy, based on saliva or blood samples. It should be done by an experienced laboratory where genetic counselors can explain test results and recommend next steps.
My Retina Tracker is a free and secure online registry run by the Foundation Fighting Blindness (FFB). The goal of My Retina Tracker is to drive the research toward prevention, treatments and cures for people living with retinitis pigmentosa, Stargardt disease, Usher syndrome and the whole spectrum of inherited retinal degenerative diseases, including Leber congenital amaurosis. My Retina Tracker notifies registrants of clinical trials and gives researchers access to their disease data – but not their personal information – to advance research and therapy development associated with IRDs.
The global registry includes rare inherited retinal disease patient disease information from Europe, North, South and Central America, Asia and the Pacific.
Once you are registered on My Retina Tracker, you are eligible for access to free genetic testing and counseling through FFB. It is essential for all people at risk of LCA to receive genetic testing to avoid the possibility of misdiagnosis and inappropriate forms of treatment.