In spring 2018, Massachusetts Eye and Ear (MEE) made history by significantly improving a young patient’s eyesight and advancing the science of genetic therapies for any inherited disease. A surgical first, the administration of the novel therapeutic Luxturna treated a 13-year-old patient with a defective RPE65 gene – a mutation that impacts the eyesight of 1,000-2,000 Americans by preventing the proper production of a protein that processes light in the eye. The newly approved treatment – the first gene therapy for inherited disease approved by the FDA – involves injecting a modified virus into a patient’s eyes to correct a deficiency caused by mutations in the RPE65 gene. These mutations prevent the production or function of a protein needed for proper functioning of the retina, the light-sensitive tissue in the back of the eye that initiates vision.
For pioneering patient Jack Hogan, the treatment was literally a game-changer: he can now play basketball in low light, as well as enjoy clear sight in the classroom. MEE surgeon Jason Comander, MD, clinically confirmed these results – improved visual acuity and the ability to see more with less light. Such encouraging early signs offer hope as research into additional gene therapies for inherited retinal disorders continues, with MEE as a hub.