
RPGR
RPGR (Retinitis Pigmentosa GTPase Regulator) is a gene responsible for producing a protein that plays a crucial role in the function and survival of photoreceptor cells in the retina, the part of the eye that detects light. Mutations in the RPGR gene can lead to a type of inherited eye disease called retinitis pigmentosa, which causes progressive vision loss. This condition often begins with difficulty seeing at night and gradually worsens, affecting peripheral vision and potentially leading to blindness. Understanding RPGR helps in diagnosing, managing, and developing treatments for certain hereditary retinal diseases.