What is X-Linked Retinal Dystrophy, RPGR-related? X-linked retinal dystrophy, RPGR-related, is characterized by progressive vision loss caused by harmful genetic changes (variants) in the RPGR gene. RPGR plays a role in the function of the photoreceptors. Photoreceptors are a specific type of cell in the eye that is important for vision. Variants in RPGR can lead to a loss of photoreceptors, which in turn causes vision issues. X-linked retinal dystrophy, RPGR-related is an X-linked disease. This means the condition is typically more severe in individuals assigned male at birth (XY). However, individuals assigned female at birth (XX) may also have symptoms of the condition. Affected individuals with X-linked retinal dystrophy, RPGR-related, develop vision loss in childhood. However, some may not develop symptoms until their twenties or thirties. Individuals may experience a loss of peripheral (side) vision (also known as “tunnel vision”) and/or central vision, difficulty with color vision or seeing a night (night blindness), sensitivity to light (photophobia), and nearsightedness (myopia). Additional considerations for carriers XX individuals (who are typically assigned female at birth) are carriers of X-linked retinal dystrophy, RPGR-related. Some carriers may exhibit vision issues. In most cases, vision issues are milder, with an onset later in life than in affected XY individuals. However, some carriers have severe vision issues. Many carriers have differences in the back inner surface of the eye (fundus) that can be seen on an eye exam. How common is X-Linked Retinal Dystrophy, RPGR-related? Many genes are known to cause retinal dystrophy, which has an incidence of around 1 in 2000 births. Approximately 5% of all retinal dystrophy is caused by RPGR. How is X-Linked Retinal Dystrophy, RPGR-related treated? There is no cure for X-linked retinal dystrophy, RPGR-related. The use of low-vision aids, such as glasses, may increase eye comfort. UV-A and UV-B-blocking sunglasses may also be recommended. There are state-level services for those with progressive eye disorders to help increase their quality of life. Studies of more advanced treatments, including gene therapy, are ongoing. What is the prognosis for an individual with X-Linked Retinal Dystrophy, RPGR-related? Vision loss is progressive for those with X-linked retinal dystrophy, RPGR-related. Many affected individuals are legally blind by their forties or fifties. Most carriers will have normal or milder vision changes, though less commonly, a carrier can progress to legal blindness. The condition does not impact life expectancy. Other names forX-linked retinal dystrophy, RPGR-related Cone-rod dystrophy, X-linked, 1 Macular degeneration, X-linked atrophic Retinitis pigmentosa type 3 (RP3) X-linked retinitis pigmentosa X-linked retinopathy References Cremers et al., 2018, Genes (Basel), 9(4):215, PMID: 29659558 De Silva et al., 2020, Prog Retin Eye Res., 82:100898, PMID: 32860923 Fahim et al., 2023, https://www.ncbi.nlm.nih.gov/books/NBK1417/ Georgiou et al., 2021, Clin Exp Ophthalmol., 49(3):270-288, PMID: 33686777 Gregg et al., 2021, Genet Med., 23(10):1793-1806, PMID: 34285390 Marques et al., 2023, Graefes Arch Clin Exp Ophthalmol., 261(3):867-878, PMID: 36050475 Talib et al., 2019, Retina., 39(6):1186-1199, PMID: 29528978. Tuupanen et al., 2022, Transl Vis Sci Technol, 11(1):6, PMID: 34985506