Recently scientists at the University of Oxford have developed a gene therapy treatment in the hopes of reversing the affects of congenital eye blindness. Congenital eye blindness is a genetic disease that effects 1 in every 50,000 people, most commonly males. The disease is due to a single gene mutation that causes a gradual loss of light detecting retinal cells. Patients are born with full eye sight and find that their vision progressively narrows until they eventually become completely blind. As of yet there have been no successful treatments developed to slow the progression of this disease. However, there have been many attempts to develop treatment for a number of eye conditions. Diseases effecting the eye are often caused by only one or two genes and eyes can be easily accessed for administration of treatments, this makes eye conditions desirable for scientists to work on.
The gene therapy treatment developed by the scientists at the University of Oxford is administered through an injection into the eye. The injection contains a virus administered directly into the retina. This virus contains billions of functioning copies of the defective gene. With this working copy the retinal cells can in turn function properly. This experimental treatment was administered to six patients. In wonderful news results from the study published in the New England Journal of Medicine on April 28, 2016 reported that the treatment had seen great success. After four years not only did the treatment slow progression of the disease, it reversed the effects in some cases. The youngest tested patient received the best results, leading scientists to the conclusion that early administration is best. However, all patients regardless of age saw astounding results. The success of this treatment has scientists hopeful in the successful treatment of other eye conditions. I am interested to see where this great success takes the treatments of genetic eye diseases, and how the study of this therapy on a larger population size results.