RPGR

RPGR stands for Retinitis Pigmentosa GTPase Regulator. It is a gene that plays a crucial role in the development and function of photoreceptor cells in the retina. These cells, rods and cones, are responsible for detecting light and transmitting visual information to the brain. Mutations in the RPGR gene are a significant cause of inherited retinal dystrophies, particularly X-linked retinitis pigmentosa (XLRP). XLRP is a group of genetic disorders that primarily affect males, leading to progressive vision loss. Symptoms of RPGR-related retinitis pigmentosa often include nyctalopia (night blindness) in childhood or adolescence, followed by a gradual loss of peripheral vision and eventually central vision. The RPGR gene encodes a protein that is involved in various cellular processes within photoreceptors, including ciliary function, protein trafficking, and maintaining the structure of these light-sensitive cells. While the exact mechanisms are still being researched, disruptions in these functions due to RPGR mutations lead to photoreceptor degeneration. Diagnosis typically involves genetic testing, alongside ophthalmological examinations to assess the extent of vision loss and retinal damage. Currently, there is no cure for RPGR-related retinitis pigmentosa, but research is ongoing to develop gene therapies and other treatments aimed at slowing or reversing vision loss.