Gene Researchers: Curing Blindness

As one of the premier patient care, teaching and research ophthalmology departments in the country, Scheie is a world leader in research and consistently ranks among the top five programs in the nation in funding by the National Eye Institute.

“Scheie one the of the top-funded eye research programs in the country,” said Joan O’Brien, MD, chair of ophthalmology, “but almost all of our scientists are physician/scientists who bring this research back to their patients. Marrying the science to patient care allows us to treat vision loss in a personalized manner.”

Gene therapy is just one of the areas of focus for researchers at Scheie. With the rapidly expanding knowledge about genetic diseases, researchers can target the biology of eye diseases and develop personalized treatment for patients.

Using Gene Therapy to Cure Blindness

The work of Penn researchers received a great deal of publicity after they brought sight to children who suffer from inherited retinal diseases. Leber congenital amaurosis (LCA) is a group of inherited blinding diseases that damages light receptors in the retina. It usually begins stealing sight in early childhood and causes total blindness by the time patients reach their 20s or 30s.

Clinical trials conducted at The Children’s Hospital of Philadelphia (CHOP) have shown that gene therapy safely restored vision in young people with this rare form of congenital blindness. The treatment consists of injecting one eye with a virus genetically engineered to carry a normal version of the gene that causes LCA.

Although the patients have not achieved normal eyesight, their vision improved from detecting movements to reading lines on an eye chart. Three children, who previously sat at the back of the class relying on electronic screens and assistance from teacher aides, now, sit in the front of the class. One joins classmates on the playground for a game of softball and another joins them for soccer.

“For children and young adults with congenital blindness gene therapy is the best chance for restoring and improving their sight,” said Jean Bennett, MD, PhD, and lead author of the study. “With the success we have had in treating one eye, we are cautiously preparing to begin treatment of the other eye. Penn and CHOP are leaders in developing ocular gene therapy and are poised to move forward quickly with this promising research.”

Providing World-Class Care

Along, with their research, Penn Eye Care specialists provide the most up-to-date methods of treatment for the full range of eye disorders, from routine eye examinations to the most advanced ocular surgery.

For more information about eye care and ophthalmology research at Penn Medicine or to schedule an appointment with a Penn ophthalmologist, please visit PennMedicine.org or call 800-789-PENN (7366).

Watch a video of study participants before and after treatment.