In a room illuminated by Miami light, a 14-year-old boy observes the world with new eyes. Until recently he lived in a blurred world, where every outline is blurred and every color is faded. Today, thanks to a doctor's brilliant intuition and determination, his world has finally become bright and colorful. This is not only the (true) story of Antonio and a gene therapy in drops, but it could be the beginning of a revolution in the treatment of eye diseases.
Magic in a drop
When we think of advanced medicine, we often imagine complex machinery or innovative surgical procedures. But sometimes, the most revolutionary solution can be as simple as a drop. This is exactly what happened to Antonio Vento Carvajal, a boy who has spent much of his life in a sort of “visual fog”.
Born with a rare genetic condition called dystrophic epidermolysis bullosa, Antonio had blisters all over his body, including his eyes. This disease not only caused him physical pain, but also blurred his vision, rendering him legally blind. But as often happens in the best stories, when all seems lost, a turning point comes.
A doctor's brilliant idea
Looking at the photos of Antonio's eyes, Dr Alfonso Sabater he imagined applying the same gene therapy he was using to the boy's skin, with good results. A choice that made it necessary to adapt the remedy, initially in gel form: by obtaining only the aqueous part, and testing the solution, the results gradually arrived. After months of gene therapy administered through eye drops, the dull scars covering both of Antonio's eyes disappeared. This lucky intuition not only changed Antonio's life, but opened the door to similar therapies that could help millions of people.
Antonio's family came to the United States from Cuba in 2012, seeking a cure for his condition. Despite numerous operations to remove the scar tissue from his eyes, Antonio's vision continued to deteriorate. But Sabater didn't give up. He promised Antonio to find a solution, and he kept that promise.
Gene therapy behind the finish line
Antonio's condition is caused by mutations in a gene that makes a protein called collagen 7. Therapy, called Vyjuvek, uses an inactivated herpes simplex virus to deliver working copies of that gene. And after years of research and testing, Antonio began receiving the treatment.
Today, Antonio can do things that were previously unthinkable for him, such as playing video games with friends and walking safely. His story is a tribute to the power of determination and innovation, and is also a symbol of how science, when used for good, works almost miracles.
Now the medical world is looking with interest at this new gene therapy: it could be the key to treating other eye diseases and giving hope to millions of people around the world. As Sabater himself said, “If we can help one person, we can help everyone.”
