A 14-year-old boy who was born with a rare genetic condition that caused blindness has regained his sight thanks to gene therapy eyedrops.<\/p>\n
Antonio Vento Carvajal was diagnosed with dystrophic epidermolysis bullosa, a condition that causes blisters to form on the skin and in the eyes. The blisters eventually scarred his eyes, leaving him legally blind.<\/p>\n
Dr. Alfonso Sabater, a corneal specialist at the University of Miami Health System’s Bascom Palmer Eye Institute, treated Antonio with gene therapy eyedrops that were designed to deliver a working copy of the gene that was mutated in his condition.<\/p>\n
After two years of treatment, Antonio’s vision has improved significantly. In his right eye, his vision is now 20\/25, which is considered near-perfect. His left eye is also improving, and his doctors hope that it will eventually reach the same level of vision.<\/p>\n
Antonio’s case is the first time that gene therapy eyedrops have been used to treat a genetic eye disease. The success of this treatment could pave the way for new gene therapy treatments for other eye diseases, such as Fuchs’ dystrophy and age-related macular degeneration.<\/p>\n
Antonio is grateful for the opportunity to see again. “I can finally play video games with my friends,” he said. “And I can walk around without being afraid of bumping into things.”<\/p>\n
Dr. Sabater is also pleased with the results of the treatment. “This was a long journey, but it was worth it,” he said. “Not only for Antonio, but also because it opens the door to treating other patients in the future.”<\/p>\n