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患儿男,6岁,汉族,父亲籍贯江苏,母亲籍贯河北。患儿出生时全身皮肤白,头发白色略带浅黄色,眉毛及睫毛均呈白色,虹膜灰色,畏光。2005年10月前来遗传咨询并要求进行白化病分型诊断。体格检查:身体发育良好,全身皮肤白,无明显色素痣,无色素沉着斑块,头发呈淡黄色,眉毛及睫毛均呈白色(图1)。眼科检查:①视力:OD:0.08,矫正:-5.50Ds+3.00 Dc×105=0.1~+;OS:0.06,矫正:-9.00Ds+3.75Dc×75=0.07。②角膜透明,晶状体无混
Child male, 6 years old, Han nationality, father native Jiangsu, mother origin Hebei. Children born with white skin, white hair slightly yellow, eyebrows and eyelashes are white, iris gray, photophobia. October 2005 to come to genetic counseling and asked for classification of albinism diagnosis. Physical examination: Physical development is good, body skin is white, no obvious pigmented nevus, pigmented plaque, hair is yellow, eyebrows and eyelashes are white (Figure 1). Eye examination: ① visual acuity: OD: 0.08, correction: -5.50Ds + 3.00 Dc × 105 = 0.1 ~ +; OS: 0.06, correction: -9.00Ds + 3.75Dc × 75 = 0.07. ② corneal transparency, the lens without mixing