Gene Therapy Eye Drops Restore Vision of Blind Boy

An innovative gene therapy treatment through eyedrops restored the vision of a 14-year-old boy named Antonio Vento Carvajal.

Antonio suffered from a rare genetic disorder named dystrophic epidermolysis bullosa. This genetic disorder causes blisters all over the body and in eyes.

He has shown remarkable development during the clinical trial to test the world’s first topical gene therapy at University of Miami Health System’s Bascom Palmer Eye Institute. His skin condition improved making the researchers think if it could be adapted for Antonio’s eyes.

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.

In August 2022, Antonio underwent surgery on his right eye, after which he was treated with the eye drops.

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, and it is also steadily improving, measuring close to 20/50.

Dr Sabater, director of the Corneal Innovation Lab at the eye institute, feels this gene therapy eyedrops can be used for other diseases by changing the gene delivered by the virus.