Gene therapy restores vision in blind teen, raises hope for millions

By India Today Health Desk: A 14-year-old boy named Antonio Vento Carvajal, who has been legally blind for most of his life, can now see again. This remarkable transformation is the result of an innovative gene therapy treatment delivered through eyedrops.

Antonio was born with dystrophic epidermolysis bullosa, a rare genetic condition that causes blisters all over his body and in his eyes. His vision deteriorated to the point where he didn't feel safe walking around.

The treatment, known as Vyjuvek, uses an inactivated herpes simplex virus to deliver working copies of a gene that produces collagen 7, a protein that holds together both skin and corneas. Antonio's condition is caused by mutations in this gene. The eyedrops use the same liquid as the skin version of the treatment, just without the added gel.

After two years of rigorous testing, including trials on mice, the team received "compassionate use" approval from the US Food and Drug Administration and permission from university and hospital review boards. In August of last year, Antonio underwent surgery on his right eye, after which Dr Sabater began treating him with the eyedrops.

The results were astonishing. Antonio's eye recovered from the surgery, the scarring didn't return, and there was significant improvement each month. Doctors recently measured the vision in Antonio's right eye at a near-perfect 20/25.

This year, treatment began on Antonio's left eye, which had even more scar tissue. That eye is also steadily improving, measuring close to 20/50.

This breakthrough not only restored Antonio's sight but also opened the door to similar therapies that could potentially treat millions of people with other eye diseases.

Dr Sabater, director of the Corneal Innovation Lab at the eye institute, believes that gene therapy eyedrops could potentially be used for other diseases by changing the gene delivered by the virus.

With his vision restored, Antonio can now enjoy typical teenage activities like playing video games with his friends and walking around safely.

This medical milestone could be a beacon of hope for those suffering from similar conditions, illuminating the path towards a future where blindness could become a thing of the past.

(With inputs from Associated Press)

Source: India today