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眼皮膚型白化症―病例報告
Oculocutaneous Albinism-A Case Report
摘要
白化症是一種酥胺基酸不能合成黑色素之先天性疾病。本文患者為一25歲男性青年，除具全身性毛髮、皮膚黑色素缺乏之特徵外，眼部可見兩眼視力不良及高度屈光不正，眼球震顫及內斜視，虹膜半透明化，眼底表現黑色素缺乏及視網膜中央凹發育不良。視覺誘發電位及網膜電圖為振幅減低，眼電圖振幅增大，血中銅及鋅之濃度皆在正常範圍。
關鍵字
無資料並列摘要
Albinism is a manifestation of a metabolic disorder in which hypopigmentation is a major feature. We present a case of oculocutaneous albinism who has all the characteristics in both skin and eyes. Hypopigmentation of the fundus and hypoplasia of the fovea were noted by ophthalmoscopy. Visual evoked potential and electroretinogram showed subnormal with decreased amplitude. Electrooculogram showed supernormal with increased amplitude. We also sampling the serum Cu, Zn level, both within normal limit. The vision improved with the telescopic low vision aids.
並列關鍵字
Albinism延伸閱讀
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