Being one of the first medical institutions nationally to complete a revolutionary gene replacement surgery; to restore vision in patients with retinal degeneration, surgeons of The Vision Center at Children’s Hospital Los Angeles (CHLA); have successfully completed the procedure by adding 13 patients. The outcomes of two of those patients, San Diego residents Monroe Le; 6, and Heather Hodlin, 25, were chronicled on the recent ABC News Nightline episode, “Miracle of Sight.”

Going to have normal vision

However, they found that using gene therapy to treat this condition can be life-changing for children; under the age of 10. While they are not going to have normal vision; we can improve it to a degree that they can do activities they couldn’t do before, like playing outside at night. They gain greater visual clarity of edges on objects, so they can draw and enjoy picture books; and play with toys like puzzles and Legos.” CHLA surgeon Aaron Nagiel, MD, PhD.

However, the breakthrough one-time treatment replaces a defective gene called RPE65 located in the retina; the membrane at the back of the eye that detects light and color; with a healthy copy made from artificial DNA, the equivalent of human DNA. RPE65 is responsible for producing a protein that makes light receptors work in the eye.

But of the seven hospitals nationwide originally approve to deliver this therapy to patients; CHLA was the only program with two full-time, dedicated pediatric retinal surgeons on site; Nagiel, and Thomas C. Lee, MD, director of The Vision Center at CHLA and associate professor of ophthalmology at the USC Roski Eye Institute.

Total blindness eyesight improvement

CHLA also is home to the Center for Personalized Medicine; where a laboratory certified by the Clinical Laboratory Improvement Amendments (CLIA) can do the necessary genetic testing for potential patients; to determine if they have the defective RPE65 gene.

“They are pleased to be able to offer this therapy that can truly impact a patient’s quality of life and; potentially, help them see their future through ‘new eyes’,” said Lee. CHLA has performed the procedure on nine children; as young as age three, and a handful of adults.

While results have been less dramatic with adult patients the inherited disease manifests itself early in childhood; and gets worse over time, leading to total blindness eyesight improvement is largely contingent; on how far the condition has advanced. “For adults the clock has been ticking and cells have been dying over time;” explains Nagiel, an assistant professor of Ophthalmology at Keck School of Medicine of USC.