Our Retinal Dystrophy Clinic is known by experts worldwide, and we treat people from around the world, including Europe, Asia, and North and South America. The clinic aims to provide an early, accurate diagnosis using advanced imaging, genetic testing, and electrophysiology. Each visit includes individualized care with a tailored review of relevant therapies based on a patient’s genetics and clinical presentation. Multidisciplinary support—including social work, low vision services, and coordinated specialty referrals—ensures that patients receive comprehensive care across UPMC.
Our programs and services include:
- The latest diagnostic equipment. High-tech eye imaging tools help precisely diagnose IRD for the best treatment options.
- Innovative treatments. If it's an option, we offer gene therapy to help slow down your IRD and preserve your eyesight. We also offer the chance to take part in cutting-edge research trials.
- Care by leading retina experts. Our doctors are highly trained, world-renowned experts in diseases of the retina.
- Access to genetic eye disease experts. Our team tests and assesses your genetic eye disorder. They can help you understand your health issues and whether your family members are also at risk.
- Vision training. Our rehab experts work with you to maximize your eyesight with low-vision aids. These may include special magnifying glasses and computer programs that translate a visual scene into spoken words.
- Follow-up with occupational therapists. These experts can help you with daily tasks, so you're safe at home.
- Input from social workers. They help navigate government programs, arrange transportation, and access other vision services.
- Access to highly trained eye surgeons. Our experts are here if you need surgery for an IRD.
Comprehensive Genetic Testing and Counseling
More than 300 genes are known to be associated with IRDs, meaning individuals with similar symptoms may have very different underlying causes. Most often, our clinic uses a panel-based genetic testing to maximize the likelihood of identifying the correct diagnosis.
Certified genetic counselors guide patients through every step of the process, starting with gathering personal and family medical history. They assist in selecting the most appropriate genetic test and explain the content of the test and the laboratory technology involved. Counselors also help patients navigate insurance, self-pay, and sponsored testing options, and support those interested in enrolling in national programs such as the My Retina Tracker Registry. Once results are available, counselors help patients understand their diagnosis, prognosis, implications for family members, and potential eligibility for current or future treatments.
Vision Rehabilitation
Low vision specialists and occupational therapists help patients maximize remaining vision and adapt daily activities. This includes training in assistive devices, environmental modifications, and strategies to maintain independence.
Leading the Future of Gene Therapy
Having an IRD means a genetic change is the cause of your retina problems. Gene therapy isn't a cure for IRDs, but it's a promising treatment. It may improve your vision and slow the progression of your disease. Some types of gene therapy can replace a defective gene with a new gene. Others produce material that helps stop or reduce the risk of cell death in the retina. Doctors can administer some gene therapies through an injection in the eye. Others require surgery.
The UPMC Vision Institute is a national leader in developing and delivering gene-based treatments for retinal conditions. It is an approved treatment center for Luxturna, the FDA-approved gene therapy for RPE65–related retinal dystrophy, delivered surgically beneath the retina.
Beyond approved therapies, the Department of Ophthalmology participates in numerous clinical trials targeting a wide range of IRD-related genes. Under the leadership of internationally recognized clinician-scientist Dr. José-Alain Sahel, researchers are pioneering new insights into rod-cone interactions and developing neuroprotective strategies now being evaluated in clinical trials worldwide.
We are also fortunate to be able to collaborate with several scientists in our department who are researching and developing new therapies, including the Byrne Lab, the Rossi Lab, the Yuanyuan Chen Lab, the Paris Vision Institute, and the FFB Consortium.
Restoring Sight Through Optogenetics
For patients with advanced photoreceptor degeneration, the Vision Institute is exploring optogenetics—an approach that uses gene therapy to make remaining retinal cells responsive to light. Early clinical studies, including one in which a participant regained the ability to locate and count objects, represent a major step toward restoring functional vision.
Artificial Retina Technology
The Clinic also collaborates on international trials of retinal prosthetics, such as the PRIMA chip—an implantable device designed to bypass damaged photoreceptors and deliver visual signals directly to the brain. Early results show encouraging improvements in visual function for individuals with advanced macular disease.
Not every therapy will be appropriate for every patient. Multiple details must be considered to determine if a given therapy may be an appropriate option, including age, diagnosis, genetic results, and stage of disease. Each time a patient is seen in our clinic, we provide a personalized assessment and education about the current landscape of therapies that may be relevant in the short- and long-term.