Gene Therapy Techniques Highly Encouraging


Save Sight Institute is pleased to host Professor Graham Holder from the world-renowned Moorfields Eye Hospital in London. Here, he shares some thoughts on the potential of gene therapy in treating patients with eye disease.

Graham Holder

Graham Holder


In 2007, researchers at Moorfields Eye Hospital were the first to trial gene therapy on humans as a treatment for blinding disorders. The trial’s purpose was firstly to find out whether gene therapy for retinal disease is safe in humans, and secondly to find out if it can improve vision. The results showed that gene therapy is safe and can improve sight. Consequently, the technique is likely to significantly impact the treatment of eye disease in the future.

"We initially conducted trials on a childhood disorder known as Leber’s congenital amaurosis (LCA)” says Professor Holder “a rare inherited eye disease caused by an abnormality in a gene called RPE65."

LCA appears at birth, or in the first few months of life, and causes blindness or near blindness in most patients.

The trial involved surgically inserting a virus containing healthy versions of the RPE65 gene under the retina where it is taken up by retinal cells to help them function normally. Following this, patients were tested to evaluate the impact on vision. All achieved levels of vision at least equivalent to before the operation, with one patient developing significantly improved night vision.

"These results indicate that the technique is safe and that it offers real potential for patients” says Professor Holder. Still experimental, trials are underway in patients with other forms of retinal disease.

“Patients with genetic mutations can be encouraged by the results, although much more research is needed before the general population will be able to benefit from this exciting technology."