Gene therapy: A cure for congenital blindness

Congenital Blindness is blindness that occurs when a child is born. There are many forms of congenital blindness. One specific form of congenital blindness is Leber’s Congenital Amaurosis.

Leber’s Congenital Amaurosis (LCA) is a form of blindness that is usually found at a very young age. It is extremely rare and occurs in 3 in 100,000 newborns.

A diagram of how gene therapy works

Though LCA does not currently have a cure, experts have been successfully using gene therapy to allow patients with the disease to gain vision. Gene therapy is a process in which a working gene is inserted into a patient to repair a malfunctioning gene.

In 2007, a team of experts at the University of Pennsylvania and Children’s Hospital of Philadelphia, conducted gene therapy on twelve patients with LCA. The above diagram shows how the gene therapy worked.

1. An eye syringe containing a vector, or genetically engineered virus, is injected into the patient’s photoreceptor cells.
2. The vector releases the healthy gene, in this case, the RPE65 gene.
3. After gene therapy was performed on twelve patients, vision was almost completely restored to their eyes. The restored vision has been permanent from the time of the experiment (started in October 2007).