Scottish stem cell researchers believe they are one step closer to understanding X-linked retinitis pigmentosa (XLRP). A new study suggests that people with XLRP have significant structural differences in their genetic code and photoreceptor cells than people with normal vision.
Researchers at the University of Edinburgh used skin samples from two XLRP patients and a few of their relatives who didn't have the eye disease. They also used stem cells to make these samples produce photoreceptors and examine the results.
Study authors note that there were significant differences between the structures of the photoreceptors produced by XLRP stem cells and healthy cells.
After recording these findings from their stem cell research, researchers examined the RPGR gene in mice with XLRP. Scientists found that the RPGR gene actually helps protect the abnormal structure of the photoreceptor cells. Doctors wonder whether the RPGR gene tells XLRP patients' photoreceptors to act abnormally and whether or not gene therapy could help address this issue.
Dr. Roly Megaw, an ophthalmology clinical lecturer at the University of Edinburgh, was the lead author on this study. He told reporters that he hopes this research will help eye doctors better understand the role RPGR plays in changing XLRP patients' photoreceptor cells.
Retinitis pigmentosa is a rare inherited eye disease that causes the retina to deteriorate over time. Most often the signs of retinitis pigmentosa are noticeable during childhood. Warning signs include difficulty seeing in dim areas and diminished peripheral vision.
Unfortunately, there's no cure for retinitis pigmentosa at this moment. A few treatment strategies eye doctors use on retinitis pigmentosa patients include vitamin A supplementation, vision protection devices, and, in more serious cases, an ARGUS II implant.
This study was published in a recent edition of the medical journal Nature Communications. The article was officially called, "Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models."