Watanabe I, Watanabe Y, Motomura E, Nishimura M, Yazaki M
Doc Ophthalmol. 1985 Aug 30;60(2):173-81. doi: 10.1007/BF00158032.
A pedigree of Menkes' kinky hair disease (MKHD) is reported. One patient of this family who underwent copper treatment was followed for three years with fundus examinations and ERG measurement. The blood copper level remained normal after six months of age, when intravenous treatment was switched from cupric acetate to cupric sulfate. Optic nerve atrophy and decrease in amplitude of the ERG were observed at three years of age. In an experiment using mouse models of MKHD (macular mouse mutant, Moml), we compared the affected mice that received copper treatment with normal mice. However, there was no difference between them in ERG responses, number of ganglion cells, or thickness of retinal layers. These results support the possibility of prolonged survival and maintained vision in the patients of MKHD by earlier normalization of the copper level.
报道了一例门克斯卷发综合征（MKHD）的家系。该家族中的一名接受铜治疗的患者接受了为期三年的眼底检查和视网膜电图（ERG）测量随访。在静脉治疗从醋酸铜改为硫酸铜后，该患者6个月龄后血铜水平保持正常。3岁时观察到视神经萎缩和ERG振幅降低。在一项使用MKHD小鼠模型（黄斑小鼠突变体，Moml）的实验中，我们将接受铜治疗的患病小鼠与正常小鼠进行了比较。然而，它们在ERG反应、神经节细胞数量或视网膜层厚度方面没有差异。这些结果支持了通过早期使铜水平正常化，MKHD患者有可能延长生存期并维持视力。
