Gene therapy eyedrops help restore sight for teen

A teen who was born with a condition that took his eyesight is now able to see.

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Antonio Vento Carvajal, 14, has been legally blind for most of his life after dystrophic epidermolysis bullosa scarred both of his eyes, The Associated Press reported.

About 5,000 people in the U.S. have the condition, according to the National Institutes of Health. It is caused by mutations in a gene that makes collagen 7, which binds skin and corneas. The condition caused blisters on Antonio’s body and even in his eyes, the AP reported.

Symptoms can start when a person is a newborn or infant, according to the NIH.

Antonio had surgery on his eyes to remove the scar tissue, but it grew back. His eyesight got so bad that he didn’t feel safe walking around.

He was part of a clinical trial to test a topical gene therapy and it helped clear up his skin. His doctor, Dr. Alfonso Sabater, director of the Corneal Innovation Lab at the University of Miami Health System’s Bascom Palmer Eye Institute, theorized that the treatment could be used on the teen’s eyes.

He contacted Krystal Biotech, which is based in Pittsburgh, to see if the company could make a formula for eyes.

“It didn’t hurt to try it,” Suma Krishnan, the biotech firm’s co-founder and its president of research and development, told the AP.

The medication is called Vyjuvek and uses an inactive herpes simplex virus to deliver a working copy of the gene that is mutated in patients like Antonio. The treatment that is used on the skin is in a gel form, while the one the company came up with for the eyes does not use gel.

The drug was tested for two years before Krystal Biotech got “compassionate use” approval from the U.S. Food and Drug Administration. The company also had to have approval from the University of Miami and its hospital review boards.

The eyedrop treatment started after Antonio underwent surgery on his right eye. His eye recovered after surgery and the scarring he had seen before didn’t return. Each month, his eyesight significantly improved in the right eye, with it recently becoming near-perfect 20/25.

Earlier this year, he started the treatment in his left eye, which had more scar tissue than his right. Since the treatment began, he has regained sight in that eye, measuring about 20/50.

Antonio gets nearly weekly checkups with the drops being put in monthly. His treatment has also given him a new lease on life, allowing him to walk around safely and do something that most teens do: play video games with friends, the AP reported.

Sabater said similar treatments could be used for other diseases by swapping out the gene in the eyedrops, the AP reported.



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