IRD stands for Inherited Retinal Disease, a group of genetic conditions that cause progressive vision loss by damaging the light-sensing cells at the back of the eye. “Signal to IRD” refers to a genetic testing initiative connected to the Foundation Fighting Blindness that helps people with these conditions identify the specific gene mutation responsible for their vision loss. The program provides diagnostic genetic testing, genetic counseling, and connection to a patient registry, all at no cost to the patient.
What Inherited Retinal Diseases Are
Inherited retinal diseases are a broad family of conditions passed down through genes that affect the retina, the thin layer of tissue lining the back of your eye that converts light into signals your brain reads as vision. The umbrella includes well-known conditions like retinitis pigmentosa, Stargardt disease, Leber congenital amaurosis, Usher syndrome, and macular degeneration with a genetic component, along with dozens of rarer diagnoses like choroideremia, cone-rod dystrophy, and Best disease.
What makes IRDs tricky to diagnose based on symptoms alone is that many of them look remarkably similar in the clinic. Two people with very different genetic mutations can show nearly identical patterns of vision loss, a problem researchers call phenotypic overlap. This is why genetic testing has become essential for people with IRDs. A clinical exam can tell you that your retina is degenerating, but only a genetic test can pinpoint which of the hundreds of possible gene mutations is driving it.
How the Genetic Testing Program Works
The Foundation Fighting Blindness partners with certified genetic testing laboratories to offer a comprehensive panel that screens hundreds of genes associated with retinal disease. One widely used panel covers 293 genes, including mitochondrial genes that can cause certain types of inherited vision loss. An expanded retinal dystrophy panel launched in 2019 through Blueprint Genetics covers 322 genes.
To participate, you need a clinical diagnosis of an inherited retinal disease from an eye care provider. Both children and adults are eligible. Your doctor orders the test, a saliva or blood sample is collected, and the lab analyzes your DNA for mutations across all the genes on the panel. The program covers the cost of the test itself and provides access to a genetic counselor who walks you through your results.
Results include a full report identifying any disease-causing variants found, along with their classification. The genetic counselor explains what the mutation means for your specific condition, how it’s inherited (whether one or both parents need to carry the gene, or whether it’s linked to the X chromosome), and what the expected progression looks like.
Why Genetic Testing Matters for IRDs
Knowing your exact genetic mutation does several practical things. First, it confirms or sometimes corrects your clinical diagnosis. A doctor might initially diagnose you with one type of retinal dystrophy, but genetic testing can reveal it’s actually a different condition with a different outlook. Second, it clarifies your inheritance pattern, which is critical information if you’re planning a family or if your relatives want to understand their own risk.
The most significant reason right now is treatment access. Gene therapy for inherited retinal diseases is no longer theoretical. The first FDA-approved gene therapy for an IRD targets mutations in a specific gene called RPE65, and dozens of clinical trials are underway targeting other genes. Without knowing your specific mutation, you can’t be matched to the right trial. One case described in the medical literature involved a patient whose genetic test identified a mutation in a gene called C2orf71. That result meant the patient could be flagged as a candidate for future clinical trials targeting that specific gene, something that would have been impossible without testing.
The My Retina Tracker Registry
A key part of the program is its connection to the My Retina Tracker Registry, a global database maintained by the Foundation Fighting Blindness. When you receive genetic testing through the program, your results can be electronically transferred directly into the registry and matched to your profile. Both the written genetic report and the complete set of sequence variants detected are stored in the database.
Joining the registry is voluntary. Genetic counselors inform participants about the registry during their counseling session and can help with enrollment on the spot if you’re interested. As of recent data, over 15,700 people are registered, and more than 8,600 of them have completed genetic testing. Of those, roughly 7,600 received their testing through the foundation’s programs.
The registry serves a dual purpose. For you, it keeps your genetic and clinical information in one accessible place and can alert you when a clinical trial opens that matches your mutation. For the broader research community, it creates a large, organized pool of genetic data that helps scientists understand how common certain mutations are, how diseases progress across different populations, and where to focus new treatment development.
Conditions Covered by the Program
The range of diagnoses that qualify is extensive. It includes progressive conditions like retinitis pigmentosa (in all its inheritance patterns), cone and cone-rod dystrophies, Leber congenital amaurosis, and Stargardt disease. Syndromic conditions where vision loss is part of a larger syndrome are also covered, including Usher syndrome, Bardet-Biedl syndrome, Alström syndrome, and Joubert syndrome.
Less common conditions qualify as well:
- Choroideremia and other choroidal dystrophies, which affect the blood-rich layer beneath the retina
- X-linked retinoschisis and other vitreous dystrophies, which involve the gel-like substance filling the eye
- Hereditary optic neuropathies, including Leber hereditary optic atrophy, which damages the optic nerve
- Best vitelliform macular dystrophy and other macular dystrophies, which primarily affect central vision
- Ocular and oculocutaneous albinism, which reduce pigment in the eye and affect visual development
If you have a clinical diagnosis of any retinal condition your doctor believes is genetic in origin, the program is worth discussing with your ophthalmologist or retina specialist. The no-cost structure removes what has historically been a major barrier, since comprehensive genetic panels can cost thousands of dollars when billed through insurance or paid out of pocket.