Specialty services offered for those with inherited retinal diseases 

A new service for people with rare eye conditions has opened at the University of Illinois Chicago College of Medicine’s Illinois Eye and Ear Infirmary. 

The Inherited Retinal Disease Service offers state-of-the-art evaluation and consultation for patients with inherited retinal diseases, such as retinitis pigmentosa, Best disease, cone dystrophy, macular dystrophy, Stargardt disease and others. IRDs affect 1 in 3,000 people in the U.S. and are progressive — many cause blindness. 

“We are trying to provide the most comprehensive care for patients who have these rare diseases. One of the biggest frustrations they encounter is when an eye care professional tells them, ‘You have this rare disease and I don’t know what to do for you,’“ said Dr. Robert Hyde, a retina specialist and director of the Inherited Retinal Disease Service. “What patients seek is somebody who can not only provide insight to the diagnosis, but also work with them to address their individual concerns.” 

Dedicated staff provide patients with examinations, perimetry, genetic testing, counseling and electrophysiology — all in a single visit. Hyde explains that, on the IRD service, patients can expect that the physician will spend more time testing, evaluating and discussing treatment options than a general ophthalmologist would be able to provide.  

The IRD Service helps patients coordinate care components, providing those who need low-vision services, occupational therapy or assistive devices with the specialized resources to access them. Genetic testing is also provided. 

“For many years, it wasn’t easy for patients to get genetic testing. It was costly. That has changed with the availability of foundation-supported testing programs, which cover the costs,” Hyde said. 

There are over 300 genes involved in IRDs, and knowing which gene is responsible can help patients understand their condition, its progression, and hopefully in the future, its treatment.

“We already have one FDA-approved gene therapy, and many more are in the works,” Hyde said. 

Additionally, the IRD Service can help patients find appropriate clinical trials. 

Hyde said he and his colleagues at the IRD Service and at UIC are involved in several research projects, including a study with Jason McAnany, associate professor of ophthalmology. They are studying new ways to more accurately assess visual function in patients with IRD using electrophysiology. 

“There are a number of current assessments of retinal disease based on imaging. Imaging is important to reveal structural deficits, but cannot provide clues to the functional deficit,” Hyde said. “My interest is in how we can better understand the functional deficits and how they relate to the underlying disease process so that we can develop new therapies.”

For more information about the IRD Services, visit eyecare.uic.edu.