Innovative eye drops costing R$ 3 million annually are used to restore sight to young people with rare diseases | amazing

Hey amazing This Sunday features (17) stories AnthonyA Cuban young man suffering from a rare genetic condition regained his sight after using genetic eye drops specially made for him.

Because of this condition, Antonio has been undergoing treatment in Miami, United States, since he was four years old. In 2017, when he was eight years old, he began treatment with Spanish ophthalmologist Alfonso Sabater, who spoke to Fantastico about the innovative treatment method.

“His body was basically covered,” the doctor recalled. “He had blisters all over his skin, on his face, on his arms.”

Overall, the estimates indicate so 500,000 people around the world suffer from this diseaseBut only in severe cases vision is affected.

In his first attempt to treat his eyes, the doctor performed surgery to remove the scars that covered Antonio’s corneas and deprived him of his vision. However, they returned after two months.

It took many years to find a solution, until the mother informed her that the young man was receiving genetic treatment for his skin. “I thought: This might be the solution for his eyes,” the doctor says.

So, The skin medication has been modified for use as eye drops. It took more than a year for the US regulatory agency to approve Antonio’s exclusive experimental treatment. The cost is very high: approx 3 million Brazilian reals annuallyBut the manufacturer provided the medicine free of charge to the boy.

The application began on Antonio’s right eye, after another surgery to remove scarring. The result was considered incredible.

Genetic medicine contains a virus that is inactivated and applied to the eyes. It introduces a protein into the corneal cells that Antonio’s body does not make, called collagen VII.

The treatment provides genetic instructions to the cell to produce a protein that the patient does not produce. But when this cell dies, another is born and the treatment must be repeated again. Therefore, Antonio has to go to the hospital every week to receive eye drops.

“He sees perfectly fine,” Sabater says. “If he could walk and use his hands, he could get a driver’s license here in Florida with the vision he has.”

Hey The doctor believes that this experience could be the basis for developing similar treatments for other genetic diseases that affect visionSuch as Fuchs’ dystrophy, which is a hereditary disease that affects the cornea and is responsible for 50% of corneal transplants in the United States of America.

“It’s a big change. Almost perfect vision, it’s impressive. The treatment was successful and the left eye is improving too. When I played Minecraft and needed to find materials to build buildings, I couldn’t see. I had to get closer to the screen to be able to see . Now, I can see the little things,” Antonio celebrates.

Regarding the development of the treatment, the medical team also celebrates the possibility of replicating it in patients suffering from the same disease. “There is hope. Until a few years ago, when people were talking about gene therapy it seemed like science fiction, but the medicine was invented and we are treating Antonio,” concludes the ophthalmologist.

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