Ophthalmic genetics, the branch of medicine concerned with inherited eye diseases, is a relatively new subspecialty with less than 100 practitioners worldwide. In July 2017, the team at UK Advanced Eye Care became home to one of these rare practitioners, Dr. Ramiro Maldonado. 

Maldonado, who joins the University of Kentucky as an assistant professor of ophthalmology in the College of Medicine, is a native of Ecuador. He completed his residency in ophthalmology at Duke University, and went on to participate in fellowships in medical retina and ophthalmic genetics at the National Institutes of Health (NIH) in Bethesda, Maryland.  

“Most patients with inherited retinal diseases are looking for answers about their future. They want to know how long they’re going to be able to see or how their vision will be in 10 or 20 years,” said Maldonado. “Our goal is to try to answer their questions and guide them through the many challenges they will be facing in the future, as well as to connect them with the research treatment options that are currently available.” 

While Maldonado treats patients with retinal disease of any kind, his research interests focus on conditions like retinitis pigmentosa, an inherited disease in which the back wall of the eye is damaged, causing severe vision impairment, and Stargardt disease, the most common form of inherited juvenile macular degeneration.  

In addition to diagnosing patients, Maldonado’s work involves genetic testing and counseling to give patients a comprehensive analysis of inheritance patterns that can assist in determining the chances of transmitting certain diseases and conditions to their children.  

Maldonado is excited to bring his expertise to UK Advanced Eye Care and looks forward to the continued study of gene therapies that could lead to therapeutic interventions for differing inherited diseases. 

“We aim to have clinical trials and secure grants to support [these] research efforts. We are living in an exciting moment for ophthalmic genetics, exciting things are in the near future and we want to be there to help our patients throughout the world.”