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 that the RPGR gene is on the X-chromosome. Individuals assigned male at birth typically have one copy of the X-chromosome and the RPGR gene, while individuals assigned female at birth typically have two copies. Without this "backup" copy of the RPGR gene, biological males typically have more severe symptoms. Most males 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 Carrier females may be asymptomatic or may have some vision issues. In most cases, vision issues are milder, with an onset later in life than in affected males. However, some female carriers have vision loss as severe as an affected male. Many females 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 males with the disorder are legally blind by their forties or fifties. Most female carriers will have normal or milder vision changes, though less commonly, a female 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