Genetic Testing

Anyone with an inherited retinal disease (IRD), including Leber congenital amaurosis (LCA), should strongly consider genetic testing. Genetic testing often identifies the mutated gene responsible for vision loss. Armed with this important information, you and your doctor can determine the best course of action for your disease and discuss how the latest research advances 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 mutated gene, you can also participate in natural history studies or other studies that help researchers advance treatments.

Knowing the disease-causing gene also confirms the clinical diagnosis and helps you determine whether other family members are at risk of inheriting the disease. There are approximately 27 confirmed genes associated with LCA.

A note on the inheritance of LCA: Genes normally come in pairs; we have two copies of every gene in our cells. In a recessive disease, both copies of the gene pair must be mutated for the child to be affected. The vast majority of people with LCA inherit the condition through recessive inheritance.

What that means is that the affected child’s parents each have one mutated copy of the same LCA gene and one normal copy. The parents are unaffected and usually have no idea they’re carriers. Each of their children has a 1-in-4 chance of inheriting two mutated gene copies (i.e., one mutated copy from each parent) and having LCA.

How to get a genetic test: Getting genetic testing is easy. It is usually performed in a doctor’s office, where a saliva sample or swab is collected from the inside of the cheek. The sample is sent to a laboratory, and results are usually available within a few months.

Your doctor and/or a genetic counselor can explain the test results and recommend next steps.

My Retina Tracker Program is a free, secure genetic testing program funded by the Foundation Fighting Blindness (FFB). The Program provides no-cost genetic testing and counseling services that can be ordered by most healthcare providers who can clinically diagnose an inherited retinal disease. The program is for individuals living in the United States with a clinical diagnosis of an IRD.

Once you are genetically tested and the results are available, you are automatically registered in the Foundation’s My Retina Tracker Patient Registry. The Registry is free and secure, and used by researchers and companies recruiting patients for studies and clinical trials for inherited retinal diseases.

Your personal information is highly secure. The Foundation will never share your personal information with a researcher or company. If you are a potential candidate for a study or trial, you will be notified by the Foundation, and you will contact the study coordinator if you are interested in learning more about the trial.