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The Inherited Retinal Dystrophies Program
More than 20 different conditions fall under the umbrella of Inherited retinal diseases (IRDs), including retinitis pigmentosa, Stargardt disease, macular dystrophy and choroideremia.
While each has a genetic origin, the similarity ends there. Over 300 different genes have been identified as a cause of IRDs. Some IRDs manifest as early as infancy, while others may not be diagnosed until late in life. Vision loss from IRDs ranges from impaired night vision to total blindness.
In the 1940s, Kellogg became the first center in the U.S. to dedicate a clinic to inherited eye diseases. Kellogg is still one of only a few centers in the U.S. offering such a program, serving as a regional referral center for comprehensive, multidisciplinary clinical care, and an international hub for basic, clinical and translational research in IRDs.
The program is directed by K. Thiran Jayasundera, M.D., M.S. Both he and fellow ophthalmic geneticist Abigail Fahim, M.D., Ph.D., provide clinical care and conduct research and clinical trials. Electrophysiology, an essential imaging modality for diagnosing IRDs, is provided by Naheed Khan, Ph.D. Other retina clinician-researchers affiliated with the program include Cagri Besirli, M.D., Ph.D., Emily Eton, M.D., Lev Prasov, M.D., Ph.D., and Thomas Wubben, M.D., Ph.D. Basic research in IRDs is conducted by Drs. Fahim, Prasov and Wubben, along with Rajesh Rao, M.D., Debra Thompson, Ph.D., and David Zacks, M.D., Ph.D.
Genetic Counseling and Clinical Care
During an initial clinic appointment, detailed family and medical histories are gathered, and electrophysiology and other advanced imaging and visual field tests are scheduled. The clinic’s genetic counselors, Kari Branham, M.S., CGC, Dana Schlegel, M.S., M.P.H., CGC, and Rachel Sullivan, M.S., guide families through the entire process.
“Prior to genetic testing, we explain the testing process, why we frequently test for mutations in multiple genes, and the importance of arriving at a genetic diagnosis,” explains Branham. “Once a diagnosis is made, we help patients and families understand what to expect next, and over the long term.”
The clinic team also provides treatment and specialty referrals to help manage conditions that commonly accompany IRDs, such as macular edema and cataracts.
For many patients, living with an IRD also means living with the functional and emotional consequences of vision loss. “We’re here to help patients access the specific support services they need, like low vision re-habilitation, mental health counseling and social work, whether at Kellogg or in their community,” adds Dr. Fahim.
Research and Clinical Trials
The clinic provides hope to those who live with diseases that do not yet have a cure. “That’s because there is currently only one FDA-approved treatment, a gene therapy, for one IRD,” notes Dr. Jayasundera. “Kellogg is one of only 16 centers in the U.S. to offer this treatment. Until more therapies are available, we look for opportunities to connect patients with experimental treatments available in clinical trials.”
The program is home to significant federally and industry funded research in IRDs.
For example, Dr. Jayasundera is Principal Investigator of a two-part project funded by an NIH R01 grant, focused on the mental health of IRD patients. The first phase studied the interplay between vision disabilities, anxiety and depression in IRD patients. He is now enrolling patients in the second phase—a trial of an intervention combining low vision rehabilitation and a psychotherapy technique called emotion regulation therapy.
“We hypothesize that by tailoring a combination of low vision rehabilitation and psychotherapy, the two components will reinforce each other to help the patient achieve the best possible results.” A number of clinical trials for IRDs are available at Kellogg.
