An international team of experts have come together to try and develop a gene therapy for the treatment of retinitis pigmentosa. This particular therapy is believed to have been capable of restoring lost vision in animals suffering from this rare and hereditary retinal disease. This research was jointly conducted by the experts from America and Saudi Arabia.
Retinitis pigmentosa (RP) is estimated to affect one in every 3,000 to 4,000 Americans. This is noted to be a hereditary retinal dystrophy where abnormalities of the photoreceptor rods and cones seemingly lead to progressive visual loss. Rods and cones, which are specialized light-sensitive nerve cells that line the retina, notably accumulate light and send nerve signals which the brain seemingly processes as vision. It was further stated that cones facilitate color vision which aids human beings during the day; whereas at night rods present a black and white vision.
However for those people who have RP-causing genetic mutations, rods and cone cells apparently die, due to which they may experience “night blindness.” Following which, such patients may even experience a decrease in the peripheral visual field (tunnel vision), which in extreme cases could also lead to loss of central vision.
Experts from this research have notably mainly focused on the MERTK receptor protein, which is believed to be expressed in the retinal pigment epithelium. This is notably the pigmented cell layer that is closely related to the photoreceptors in the maintenance of the visual function.
Those people suffering from loss of MERTK function may seemingly result in a defect in the process that discards cell debris and pathogens, i.e. the phagocytosis. Thus, due to which debris collects in between the retinal pigment epithelium and photoreceptors, which could later even bring about the death of photoreceptors and vision loss.
For the purpose of treating these cells, the experts are hoping to transport MERTK in a viral vector, so as to restore the photoreceptor function. A test on animal models is believed to have yielded positive results. Seemingly, their next step is to demonstrate the safety of such gene therapies for future use in animal studies. Following which, they hope to conduct a similar study on human subjects as well.