Gene therapy eyedrops restore vision for blind boy

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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.

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.

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.

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.

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.

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.”

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.”

The sources for this piece include an article in MedicalXpress.

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