Symptoms of inherited retinal disease
Symptoms vary widely by condition and often develop gradually, sometimes beginning in childhood or young adulthood:
- Difficulty seeing at night or in dim lighting
- Gradual loss of peripheral vision, sometimes noticed as bumping into things
- Blurring or loss of central vision, particularly in macular conditions such as Stargardt disease
- Trouble adjusting between bright and dark environments
- A family history of unexplained vision loss
Causes & risk factors
Inherited retinal diseases are caused by changes in genes that the retina needs to function, passed down through families in different inheritance patterns. Some conditions, like retinitis pigmentosa, primarily affect the rod photoreceptors and peripheral vision first; others, like Stargardt disease, affect the macula and central vision. Because the underlying gene determines the course of the disease, identifying the specific gene involved is central to understanding your diagnosis and prognosis.
How we diagnose inherited retinal disease
Diagnosis begins with a dilated exam and advanced imaging, including OCT, color photography, and fundus autofluorescence, which together often reveal the characteristic patterns of an inherited retinal disease. We are also able to perform inherited retinal disease genetic testing in the clinic, which can facilitate the molecular diagnosis of your IRD and aid in education, prognosis, and access to future clinical trials and treatments, both for you and potentially for your posterity.
How is inherited retinal disease managed?
While most inherited retinal diseases do not yet have a cure, management focuses on accurate diagnosis, monitoring, treating complications, and connecting you with emerging therapies:
What to expect
Most inherited retinal diseases progress slowly, over years to decades, and the course varies widely even within the same condition. A molecular diagnosis gives you the clearest picture of what to expect. This is also one of the most active areas of research in all of ophthalmology, and identifying your gene today positions you and your family for the treatments of tomorrow.
Common questions
Why should I have genetic testing if there is no cure?
A molecular diagnosis clarifies your specific condition and prognosis, helps educate you and your family members about inheritance, and determines eligibility for gene-specific therapies and clinical trials, both now and as new treatments become available.
Will my children have the same condition?
It depends on the inheritance pattern of your specific gene. Some IRDs require a gene change from both parents, others from just one, and some are linked to X chromosome inheritance.
Do I need to go to an academic center for my care?
When a clinical trial or specialized therapy may benefit you, we refer you to a nearby academic center and coordinate your care together.
Are there treatments available today for inherited retinal diseases?
Gene therapy is FDA-approved for retinal disease caused by mutations in both copies of the RPE65 gene, and many more therapies are in clinical trials. Low-vision resources, monitoring, and treatment of complications also help you make the most of your vision today.
This page is educational and is not a substitute for an examination. Content follows guidance from the American Academy of Ophthalmology and the American Society of Retina Specialists.