Scientists have found a way to save the eyesight of people suffering from choroideremia – an inherited disease that leads to total blindness. If subsequent tests are successful, the therapy they are working on will be used in ophthalmology within three years. The latest discovery of researchers from Oxford University was described in the “New England Journal of Medicine”.
Gene therapy in ophthalmology is still an experimental treatment. So far, 14 patients in the United Kingdom and 18 patients treated in the United States, Canada and Germany have been tested. They all suffer from choroideremia, a disease transmitted through the X sex chromosome that causes progressive atrophy of the pigment epithelium and the blood vessels of the choroid. It leads to complete blindness around the age of 60 at the latest.
The latest research shows that gene therapy can stop vision loss in this condition and even improve visual acuity in some patients. Treatment is by injecting a normal gene into the retina that is missing in people with choroideremia.
Prof. Robert MacLaren Oxford University told the BBC News that gene therapy was used to treat patients of all ages, both in their 24s and 2015s, who were at risk of blindness. The best results were achieved with XNUMX-year-old Joe Pepper, a history teacher from Leatherhead, Surrey, who was operated on in October XNUMX. He was able to inhibit the progression of the disease and improve his vision to such an extent that he can play cricket again. This suggests that the sooner gene therapy is performed, the better the effects may be.
In 2017, gene therapy is to be tested on another group of patients. If proven to be effective and safe, it will be used in ophthalmology within two to three years.
Some of the most common serious eye diseases, such as retinal degeneration and macular degeneration, are also to be treated using genes. Prof. MacLaren says treating these diseases with gene therapy will be possible in 5-10 years at the earliest.