Gene therapy created in the U.S. has shown effectiveness in treating congenital blindness

Created in the United States gene therapy has made it possible to deliver a working copy of the gene GUCY2D in the eyes of patients suffering from congenital blindness. As writes the publication Science Daily, the therapy has shown effectiveness in treating this serious illness.

As noted by Professor of Ophthalmology Samuel Jacobson, who led the research team, the scientists have achieved lasting improvement in day and night vision in patients suffering from visual impairment due to the mutation GUCY2D. It is a mutation that causes problems in the retina as early as early childhood, provoking severe visual impairment.

Mutations in the GUCY2D gene, like mutations in more than twenty other vision genes, cause a congenital disease called Leber’s amaurosis. The GUCY2D gene encodes an enzyme in the signaling pathway of light-sensitive retinal cells – when the enzyme is deficient, signal transmission from the cones and rods is disrupted, amounting to vision loss.

“It is known that even in adults who live with Leber’s amaurosis for decades, many retinal cells remain viable and functional. Our goal is to restore at least partial vision to such people using workable copies of the GUCY2D gene,” Jacobson noted, adding that the first successful experiments have proven the therapy to be effective.