Let There Be Sight

Luxturna retinal gene therapy could bring back vision in people suffering from a form of blindness due to faulty genes

- Priya Menon

The presence of two copies of faulty RPE65 (one from each parent) gradually leads to severely impaired sight in childhood or adolescence. Luxturna can stop and even in some cases reverse the effects of this condition.

The Food and Drug Administration of the United States has approved a path breaking gene therapy treatment for a form of inherited blindness. This is the first of any such treatment for a genetic condition approved in the US. Named Luxturna, the gene therapy treats a condition called Leber's congenital amaurosis (LCA) wherein people have two faulty inherited copies of the RPE65 gene. The therapy replaces these faulty genes with normal versions, thus erasing the mutations' harmful effects. A single injection in each eye is enough to improve lost vision.

The presence of two copies of faulty RPE65 (one from each parent) gradually leads to severely impaired sight in childhood or adolescence. Luxturna can stop and even in some cases reverse the effects of this condition.

In this therapy, a benign virus with a functional version of the gene is injected directly into the retina. Once in the eye, the gene can do some of the work that the patient’s own mutated copies cannot, which stops the progress of the disease, and in some cases, improves vision.

The FDA approved Luxturna after a stage three clinical trial, in which patients who received the drug could navigate an obstacle course at night significantly better than those who received a placebo injection. Some patients who got the injection recovered their ability to do things like read and play sports, too.