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A previously unreported RPGR gene variant in a female patient with X-linked retinitis pigmentosa

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We present the case of a 40-year-old woman with a history of high myopia and nyctalopia. Her best-corrected visual acuity was 20/80 in the right eye and 20/100 in the left eye. Fundus examination revealed generalized vascular attenuation, optic nerve pallor, a... ...