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Gene therapy eyedrops using inactive HERPES VIRUS restores boy’s sight

A 14-year-old who spent most of his life blind can now see after an enterprising Miami doctor had the world’s first topical gene therapy reformulated as eye drops.

The medication was recently approved as a topical gel to be rubbed onto skin lesions caused by a sporadic disease that leaves behind severe wounds and scar tissue, sometimes resulting in the fusing together of fingers and toes.

The disease, which can also cause scar tissue buildup on eyeballs, belongs to a larger group of rare disorders called epidermolysis bullosa (EB) affecting about one in every 50,000 children.

The patient is Antonio Vento Carvajal who was born with dystrophic epidermolysis bullosa causing flaws in the gene responsible for producing collagen 7, a protein that holds layers of the skin together. Scarring on his corneas had accumulated over time, causing his vision to deteriorate so much that he did not feel safe walking around.

Mr Carvajal participated in a clinical trial testing the topical gel for EB-related skin lesions with much success. His doctor Alfonso Sabater, encouraged by Antonio’s progress, posited that the gel which used a deactivated herpes virus to deliver working copies of a collagen-producing gene could be reconfigured as eye drops – and he was right.

Antonio Vento Carvajal came to the US with his family in 2012 from Cuba to seek special care for tonic greens fda his genetic disorder. Several surgeries to remove scar tissue from his eyes proved unsuccessful, as the tissue always grew back

Mr Carvajal’s doctor, Alfonso Sabater, saw how successful a topical gene therapy was for his patient’s condition, and approached the drug maker about making a version to be applied to the eyes

The patient’s eyes recovered from the latest round of surgery and, with the help of the drops, his vision has been restored to near perfection.

Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa that hampers the production of collagen encoded in the COL7A1 gene. Roughly 3,000 people in the world have it. 

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