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先证者 ,男 ,7岁。患儿出生后发现毛发呈白色 ,皮肤淡红色 ,双眼视物差 ,畏光 ,逐年明显 ,上学困难 ,而来我院就诊。体检 ;发育及智力正常 ,全身毛发呈白色 ,皮肤呈淡红色 ,无痣及雀斑 ,心、肺、肝、脾均正常。视力 :双眼 0 1 ,不能矫正 ,双眼球水平性快相震颤 ,角膜映光法检?
Proof, male, 7 years old. Children born after the discovery of white hair, skin red, poor eyesight, photophobia, year by year obvious, difficult to go to our hospital. Physical examination; normal development and intelligence, body hair was white, pale red skin, no moles and freckles, heart, lung, liver and spleen are normal. Eyesight: Eyes 0 1, can not be corrected, fast horizontal binocular tremor, corneal reflectometry?