This study reports the clinical and genetic findings in a Chinese cohort of 40 male probands and a female proband with RP (34 cases) or CORD (7 cases) caused by variations in RPGR. Among them, we report two families with a provisional diagnosis of autosomal dominant RP (ADRP) associated with affected female carriers and characterized by a phenotypic manifestation in these patients. The gene discussed is RPGR; the disease is retinitis pigmentosa 1.