Drops of a new gene therapy have restored sight to a teenager with a rare genetic condition that caused scar tissue to build up in his eyes, rendering him blind.
A scientific journal stated that Antonio Vento Carvajal, 14, was suffering from dystrophic epidermolysis bullosa, a rare genetic condition that prevents body cells from making a certain type of collagen, sometimes called “butterfly disease”, a condition that makes the skin very sensitive to touch and thus It is prone to blisters and chronic wounds, reports Al-Rai daily.
Because collagen is also a major component of the cornea (the transparent layer of tissue that covers the front of the eye) the disease can also lead to blistering, erosion, and scarring of the eye, in cases like Antonio’s, this can lead to blindness.
Recently, the first-ever treatment for dystrophic epidermolysis bullosa was approved by the Food and Drug Administration (FDA). It’s called Vijuvic, a topical medication that users rub on their blistering skin. It works by delivering working copies of missing collagen gene to their cells. The treatment thus helps prevent new blisters from forming while the skin heals, and it does not permanently alter the DNA of the cells, so it must be reapplied regularly.
According to the scientific journal “Life Science”, the drug manufacturer manufactured a version of “Vijuvic” that works as eye drops by removing the gel-like component from its formula, and after testing the new formula on mice, the team obtained approval from the Food and Drug Administration (FDA) and university review boards. And hospitals to give Antonio the proper treatment, and in August 2022 the teenager underwent surgery to remove scar tissue from his right eye, then he started using eye drops only in the right eye.
After the surgery, the scars in Antonio’s right eye no longer appeared, and he saw steady improvement, until his vision became a near-perfect 25/20.
Earlier in the year, doctors began treating Antonio’s left eye, which had more scarring, and there was also steadily improving, to the point of approaching 50/20, which the doctors said was “very good vision.”