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‘It Has Been a Miracle’: Vision Restored for Child With Rare Genetic Disorder

A doctor at Bascom Palmer Eye Institute helped develop and then applied a first-of-its-kind gene therapy treatment.




Antonio Vento was born with a genetic disorder called epidermolysis bullosa.

The rare condition causes blistering of the skin from even mild contact, such as rubbing or scratching. It most commonly effects the top layer of skin on an individual’s hands and feet. In mild cases, blisters rarely scar after they heal.

There is no cure.

Antonio’s particular condition is called dystrophic epidermolysis bullosa, where blistering occurs in the middle layer of the skin. His is not a mild case. According to MedlinePlus, severe cases of this condition involve widespread blistering that can lead to vision loss, scarring, and other serious medical problems.

Antonio is 14 years old. He’s been a patient at Bascom Palmer Eye Institute, part of the University of Miami Health System, since he was 4. He and his family have been living in Florida since receiving a humanitarian visa to leave Cuba to attend to his care.

However, even with some of the best doctors in the world attending to his care, Antonio experienced vision loss. He was legally blind. And at times, he couldn’t even recognize his own mother unless she spoke.


There was little hope he would regain sustained vision. Doctors would remove the scar tissue on his eyes that impaired his vision. Only to have it return and impair his vision all over again.

But overcoming the impossible is where doctors can earn their stripes.

Dr. Alphonso Sabater, M.D., Ph.D, learned about a topical gel called Vyjuvek, which was doing wonders treating Antonio’s skin condition. The medication was still in clinical trials. And it wasn’t developed for use in eyes. Still, Dr. Sabater was intrigued.

He reached out to the head dermatologist in charge of Antonio’s treatment, and to the CEO of Krystal Biotech, the drug’s manufacturer. It took two years of development and testing before the U.S. Food and Drug Administration granted compassionate use approval for Antonio.

Dr. Sabater operated on Antonio’s right eye in August 2022 at the University of Miami Health System’s Jackson Memorial Hospital. Treatment this time included the newly developed drug in eye drop form. The first-of-its-kind gene therapy steadily improved Antonio’s sight. It is now 20/25, with stable acuity.

Encouraged by the results of the first surgery and treatment, Dr. Sabater attended to Antonio’s left eye in March. That eye, too, is showing vast – and sustained – improvement and is nearing 20/50. Antonio uses the eye drops once a month, and has since returned teenage activities, such as enjoying his PlayStation 4.


“I’ve seen the transformation in Antonio’s life,” says Dr. Sabater, in an article for UHealth. “He’s always been a happy kid. Now he’s very happy. He can function pretty much normally. He can read, he can study, he can play video games.”

Antonio’s mother, Yunielkys Carvajal, has been overjoyed by the results:

“It’s been a miracle. A miracle of God and a miracle of science.”

To date, the potentially game-changing eye drops have only been approved for Antonio. Dr. Sabater and Krystal Biotech are planning a broader clinical trial.

You can read more about Antonio and Dr. Sabater here and here.



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