Gene therapy has clear results for seeing-impaired

Sixty-two-year-old Jonathan Wyatt was diagnosed at age 20 with choroideremia, a rare genetic disorder that causes progressive blindness. In recent years, he was unable to read. He was one of six patients in the gene therapy trial. 

People with the disease lack a gene that helps the eye make a protein needed for normal vision. When scientists injected a copy of that gene into the eye, the retinal cells started producing the protein. All six patients had improved vision and two, including Wyatt, had dramatic results.

Robert Maclaren of Oxford University led the study.

“Rather than taking a pill or proteins or tablets, we’re actually correcting the disease at the genetic level,” Maclaren said. “In other words, genetically modifying the patients who have the problems to put the gene back that’s missing.”

"Well, this is a game changer because this is something that's been hypothesized and worked on for almost two decades,” Schwartz told CBS News. “The eye is the perfect organ into which gene therapy can begin to be successful because it's small, the amount of medication that needs to go into the eye is low, it's relatively safe.”

 One way this therapy could be useful in patients with macular degeneration is to eliminate the need for monthly injections of drugs into the eye. A single gene treatment could teach the eye to produce the medicine itself, but more testing is needed.