Researchers treated four very young children who were born with severe vision loss caused by changes in a gene called AIPL1. The children were between about 1 and 3 years old. Before treatment, they could distinguish only light and dark and could not see shapes or objects. Doctors gave the children a healthy copy of the AIPL1 gene by placing it into one eye using a harmless virus.
Over the next few years, the treated eyes slowly improved. The children began to gain usable vision in the treated eyes, while the untreated eyes remained nearly blind. Eye scans showed that the treated eyes stayed healthier, with more of the retina preserved. In two children who completed testing, brain scans showed stronger responses to what they were seeing with the treated eye. Only one child had a mild problem in the treated eye that improved, and no serious safety issues were found.
What this means for the Usher syndrome community: This study shows that early gene therapy may help restore vision and protect eye cells in severe genetic eye diseases. Although this therapy was not tested in Usher syndrome, it shows promise that similar treatments may be applied to Usher syndrome in the future.
