Innovative Congenital Ocular Disease Clinic

With accelerating advances in genetics, successful patient diagnosis and medical management of congenital and complex eye diseases often requires the combined expertise of ophthalmology, medical genetics, genetic counseling and pediatric subspecialty care. The Kellogg Eye Center’s Multidisciplinary Ophthalmic Genetics Clinic provides medical and ophthalmic genetics care to patients with inherited ocular conditions. The clinic also enables doctors to more accurately interpret and explain complex genetic testing options and results to patients and their families. This “one-stop” clinic benefits patients by enhancing communications and discussion among geneticists and specialists for the best patient care.

“The clinic enables us to expand upon our excellence in genetics, foster interdepartmental and cross-institutional collaboration, and provide quality care for patients with unmet needs,” says ophthalmic geneticist Lev Prasov, M.D., Ph.D.

On the diagnostic front, the clinic facilitates the identification of inherited eye diseases and determination of patient eligibility for clinical trials of novel therapies. Clinical evaluation helps identify which conditions are likely genetic and whether a patient will benefit from genetic testing. Genetic testing helps determine the need for additional medical screenings, counseling, and ocular disease monitoring.

“On the research side, our primary goal is to make advancements that will provide the best care for our patient population,” says Dr. Prasov. “By identifying patients and families with complex, rare diseases who are interested in participating in research studies, we can accelerate our understanding of the diseases, improve genetic testing for future patients, and develop molecular therapies.”

The Ophthalmic Genetics Clinic is carrying on the tradition of Harold Falls, M.D., who helped establish the University of Michigan Heredity Clinic, the first of its kind in the United States and the forerunner of the university's Department of Human Genetics. Dr. Falls’ observational and clinical skills became legendary in the U-M Medical School, and his pioneering work earned him distinction as a founder of medical genetics in the United States. The clinic also broadens Kellogg's and Michigan Medicine's multidisciplinary approach from inherited retinal degenerations and congenital glaucoma to a full spectrum of congenital and inherited disorders.

“Our knowledge and experience will expand as the role of genetics in ophthalmology continues to grow in the years to come,” says Dr. Prasov.

The Multidisciplinary Ophthalmic Genetics Clinic Team

Ophthalmic Geneticist: Lev Prasov, M.D., Ph.D.

Pediatric Medical Geneticists: Jeff Innis, M.D., Ph.D., Amanda Pritchard, M.D.

Genetic Counselor: Adelyn Beil, M.S., M.P.H., C.G.C.

Electrophysiology support: Naheed Khan, Ph.D.