Yamaguchi K, Takahashi S, Kawanami T, Kato T, Sasaki H
Department of Ophthalmology, Yamagata University School of Medicine, Japan.
Ophthalmologica. 1998;212(1):11-4. doi: 10.1159/000027251.
A 56-year-old Japanese man was diagnosed as having hereditary ceruloplasmin deficiency. His ceruloplasmin concentration was below the lower limit of detection. Serum copper and iron concentrations were below normal, but the ferritin concentration was highly elevated. An ophthalmoscopic examination showed retinal degeneration with yellowish discoloration of the fundus in both eyes. Fluorescein angiography demonstrated a dark choroid in the posterior pole. Geographic areas of window defects were seen in the midperipheral fundus. The retinal degeneration in this patient was thought to be caused by the cellular iron deposition that occurred as a result of ceruloplasmin deficiency.
一名56岁的日本男性被诊断为患有遗传性铜蓝蛋白缺乏症。他的铜蓝蛋白浓度低于检测下限。血清铜和铁浓度低于正常水平，但铁蛋白浓度显著升高。眼底检查显示双眼视网膜变性，眼底呈淡黄色。荧光素血管造影显示后极部脉络膜暗。周边眼底可见地图状窗样缺损区。该患者的视网膜变性被认为是由铜蓝蛋白缺乏导致的细胞内铁沉积引起的。
