Nystagmus and oculocutaneous albinism

  The domestic literature on ocular albinism OA is relatively rare, and therefore there is insufficient knowledge of the clinical features of ocular albinism OA in the Chinese population. This category of albinism is similar in appearance to the normal population, but conforms to the following clinical features: (1) male patients; (2) congenital nystagmus; (3) hypotony in both eyes; (4) insufficient or uneven pigmentation of the iris and fundus; (5) hypoplasia of the central macular sulcus in both eyes; (6) no abnormalities in general skin and hair color and exclusion of other organic lesions of the eye; (7) all patients were found to have mutations in the disease-causing gene, and all female carriers carried the mutated disease-causing gene (8) the disease-causing gene GPRl43.