RPGRelated

RPGRelated is a term used to describe a group of genetic disorders caused by mutations in the RPGR gene. This gene is responsible for the production of a protein called retinitis pigmentosa GTPase regulator, which plays a crucial role in the function of photoreceptor cells in the retina and in sperm development.

The most common condition associated with RPGR mutations is X-linked retinitis pigmentosa (XLRP), a degenerative eye disease that leads to progressive vision loss. XLRP typically affects males, as the RPGR gene is located on the X chromosome. Symptoms usually begin in childhood or adolescence with night blindness, followed by a gradual loss of peripheral vision and eventually central vision.

Mutations in RPGR can also cause other conditions, including cone-rod dystrophy, Leber congenital amaurosis, and Joubert syndrome. Some individuals with RPGR mutations may also experience male infertility due to impaired sperm production or motility.

Diagnosis of RPGR-related disorders is typically made through genetic testing that identifies mutations in the RPGR gene. There is currently no cure for XLRP or other RPGR-related eye diseases, and treatment focuses on managing symptoms and preserving remaining vision. Research is ongoing to develop gene therapies and other potential treatments for these conditions. Understanding the specific mutation and its impact is important for prognosis and potential management strategies.