Ehlers N, Bülow N
Br J Ophthalmol. 1977 Sep;61(9):595-6. doi: 10.1136/bjo.61.9.595.
Reports have appeared of abnormal copper metabolism in retinitis pigmentosa, and of a family with vitelliform retinal degeneration in which other members suffered from hepatolenticular degeneration. In the present study 15 patients with retinitis pigmentosa, 4 with various other retinal degenerations, and 1 with a family disposition to retinitis pigmentosa were examined. The copper concentration in serum and the coeruloplasmin concentration in plasma were found to be within normal limits. In 9 of the patients with retinitis pigmentosa the urinary excretion of copper per 24 hours was determined and was found to be normal. The results of the present study lend no support to the hypothesis of abnormal copper metabolism in retinitis pigmentosa.
已有报告称视网膜色素变性存在铜代谢异常，以及有一个患有卵黄样视网膜变性的家族，该家族其他成员患有肝豆状核变性。在本研究中，对15例视网膜色素变性患者、4例患有其他各种视网膜变性的患者以及1例有视网膜色素变性家族倾向的患者进行了检查。发现血清中的铜浓度和血浆中的铜蓝蛋白浓度均在正常范围内。在9例视网膜色素变性患者中测定了每24小时的尿铜排泄量，结果发现其正常。本研究结果不支持视网膜色素变性存在铜代谢异常的假说。
