Gene therapy eyedrops restored a boy's sight

Gene therapy eyedrops have restored the sight of a 14-year-old boy who was born with a rare genetic condition. The treatment, which was developed by Dr. Alfonso Sabater at the University of Miami Health System's Bascom Palmer Eye Institute, uses an inactivated herpes simplex virus to deliver working copies of a gene that helps produce a protein called collagen 7. This protein is essential for the health of the cornea, the clear front part of the eye.

Dr. Alfonso Sabater, left, examines Antonio Vento Carvajal's eyes accompanied by his mother, Yunielkys Carvajal, right, Thursday, July 6, 2023, at University of Miami Health System's Bascom Palmer Eye Institute in Miami. Antonio, who spent much of his life legally blind, can see again after months of gene therapy delivered with eyedrops. Credit: AP Photo/Wilfredo Lee

The boy, Antonio Vento Carvajal, had been legally blind for much of his life due to scarring of his corneas. He had multiple surgeries to remove the scar tissue, but it kept growing back. After two years of research and development, Sabater and his team were able to get approval from the U.S. Food and Drug Administration to use the gene therapy eyedrops on Antonio.

The treatment was a success. Within months, Antonio's vision began to improve. Today, he has near-perfect vision in his right eye and good vision in his left eye. He is able to play video games with his friends and go for walks without fear of bumping into things.

The success of this treatment is a major breakthrough for the field of gene therapy. It shows that gene therapy can be used to treat a variety of eye diseases, including those that are currently untreatable. Sabater and his team are now working to develop gene therapy eyedrops for other conditions, such as Fuchs' dystrophy, which affects millions of people worldwide.

This is a truly amazing story, and it is a testament to the power of gene therapy. It is a hope for the future of medicine, and it shows that there is no limit to what we can achieve when we work together.