Gahlot D K, Khosla P K, Makashir P D, Vasuki K, Basu N
Br J Ophthalmol. 1976 Nov;60(11):770-4. doi: 10.1136/bjo.60.11.770.
Clinically and electrophysiologically confirmed cases of primary retinitis pigmentosa have been investigated regarding their copper metabolic state. It is observed that these patients show a normal or near normal serum copper concentration, very low plasma caeruloplasmin concentration, and a very high copper urinary excretion. A similarity between this condition and hepatolenticular degeneration is drawn and it is suggested that retinitis pigmentosa may also be a condition caused by an inborn error of copper metabolism.
对临床和电生理确诊的原发性视网膜色素变性病例进行了铜代谢状态的研究。观察到这些患者血清铜浓度正常或接近正常,血浆铜蓝蛋白浓度极低,尿铜排泄量极高。有人将这种情况与肝豆状核变性进行了比较,并提出视网膜色素变性也可能是一种由先天性铜代谢缺陷引起的疾病。