Often, one of the biggest challenges facing patients with a genetic condition is being able to diagnose it. For patients with one of the more than 350 known genetic eye disorders, the difficulty of making a diagnosis — and as a result, choosing the appropriate treatment — can be compounded because their eye disease may occur in isolation or as part of a broader, systemic genetic problem.

To address the needs of patients with genetic eye disorders, ophthalmologists at the Johns Hopkins Wilmer Eye Institute have established the Wilmer Genetic Eye Disease (GEDi) Center. The center offers coordination of care for patients with genetic eye disorders, along with dedicated genetic counseling and access to subspecialists in all fields of ophthalmology.

For some patients with a suspected systemic genetic condition, subtle eye findings may help confirm a diagnosis. Other patients may present with an isolated eye finding that is genetic but may not be readily recognized as genetic.

“If we identify a particular feature in the eyes that may suggest a systemic genetic problem, having the knowledge to send that person for work-up with other groups around the hospital is really important,” says Jefferson Doyle, Ph.D., M.B.B.Ch., M.H.S., assistant professor of ophthalmology and genetics at the Johns Hopkins University School of Medicine and co-leader, along with Mandeep Singh, M.D., Ph.D., assistant professor of ophthalmology at the medical school, of the GEDi team of specialists.

Having a diagnosis is important because it can tell the patient what is the likely course of a disease, whether family members are at risk, the chance that future offspring will be affected and what treatment options may be available. With a diagnosis in hand, patients also can learn if there are any clinical trials in which they could participate (or benefit from, if the trials produce new treatments).

Another plus for patients going to the GEDi center is access to an on-site genetic counselor. This is particularly important for patients who require genetic testing in order to participate in a clinical trial. Additionally, long wait times for counseling can affect the ability to treat a disease before it damages the eyes.

In recent years, significant advancements in the field of genetics have been made, and there are new opportunities for therapeutic intervention. Nowhere is this more apparent than in the field of ophthalmology, which pioneered some of the first gene therapies approved by the Food and Drug Administration (FDA). In 2017, for example, the FDA approved a gene therapy for Leber congenital amaurosis, a rare form of inherited vision loss. Doyle and Singh foresee many more gene therapies being developed — therapies that may greatly improve the quality of life for those affected by genetic eye diseases.

The GEDi center is already well-positioned to become a major center for genetic clinical trials. Current, completed and upcoming genetic clinical trials there include those for Stargardt disease, X-linked retinitis pigmentosa and juvenile glaucoma.

What really makes the GEDi center special, says Doyle, is the connection to Johns Hopkins and its broad spectrum of expertise, skills and facilities.

“Johns Hopkins is really an ideal place to provide this kind of care,” says Doyle. “You have this incredible wealth of knowledge and experience at the Wilmer Eye Institute, paired with one of the top departments of genetic medicine in the world. It provides us with such a wonderful opportunity to help patients with these challenging conditions.”