Has Reversing Genetic Blindness Become Possible?

After receiving an injection of experimental RNA therapy in 2020, a patient born with genetic childhood blindness gained their vision for an entire year.

This study took place at the Perelman School of Medicine, in the University of Pennsylvania. During the study, patients would receive an injection of sepofarsen in their eyes, which worked by increasing the number of CEP290 proteins in the eye’s photoreceptors. Ultimately, it initiated change at the fovea, which is an important point of human central vision, where it would allow patients with LCA to slowly gain vision over the next ten months.

“Our results set a new standard of what biological improvements are possible,” said Artur Cideciyan, a research professor of Ophthalmology at Penn Medicine’s Scheie Eye Institute. “Importantly, we established a comparator for currently-ongoing gene editing therapies for the same disease” (“A Single Injection...”, 2021).