Herron B E
Ophthalmic Semin. 1976;1(1):63-9.
Wilson's disease, or hepatolenticular degeneration, is a rare inherited disorder of copper metabolism which usually affects young people. Excess copper accumulates in the tissues, primarily in the liver, brain, and cornea. This copper deposition results in a wide range of hepatic and neurological symptoms, and may produce psychiatric illness. Hepatic involvement often occurs in childhood, while neurological deficits generally are detected at a later age. The disease is inherited in an autosomal recessive fashion. Ocular findings are of particular importance because the corneal copper deposition, forming the Kayser-Fleischer ring,is the only pathognomonic sign of the disease. The structure of the ring and the presence of copper have been well established. An anterior capsular deposition of copper in the lens results in a characteristic sunflower cataract in some of these patients. Other ocular abnormalities have been described but are much less common. The pathogenesis of the disease and the basic genetic defect remain obscure. It is clear that there is excess copper in the tissues, but the mechanism of its deposition is unknown. It is in some way associated with a failure to synthesize the serum copper protein ceruloplasmin normally. Another theory suggests that an abnormal protein with a high affinity for copper may bind the metal in the tissues. The diagnosis may be suggested by the clinical manifestations and confirmed by the presence of a Kayser-Fleischer ring. In the absence of these findings biochemical determinations are necessary. The most important of these are the serum ceruloplasmin, the urinary copper, and the hepatic copper concentration on biopsy. Treatment consists in the administration of the copper chelating agent, penicillamine, and the avoidance of a high copper intake. This usually results in marked clinical improvement if irreversible tissue damage has not occurred. Maintenance therapy for life is necessary in order to continue the negative copper balance. The detection and prophylactic treatment of asymptomatic individuals with the disease is especially important. Seven cases of Wilson's disease have been presented in order to illustrate many of the features which have been discussed, with emphasis on the ocular findings.
威尔逊病，即肝豆状核变性，是一种罕见的遗传性铜代谢紊乱疾病，通常影响年轻人。过量的铜在组织中蓄积，主要在肝脏、大脑和角膜。这种铜沉积会导致广泛的肝脏和神经症状，并可能引发精神疾病。肝脏受累常发生在儿童期，而神经功能缺损一般在较晚年龄才被发现。该疾病以常染色体隐性方式遗传。眼部表现尤为重要，因为角膜铜沉积形成的凯-弗环是该疾病唯一的特征性体征。环的结构及铜的存在已得到充分证实。在一些患者中，晶状体前囊膜铜沉积会导致特征性的向日葵样白内障。其他眼部异常也有报道，但更为少见。该疾病的发病机制和基本遗传缺陷仍不清楚。很明显组织中有过量的铜，但其沉积机制尚不清楚。它在某种程度上与正常合成血清铜蛋白铜蓝蛋白失败有关。另一种理论认为，一种对铜具有高亲和力的异常蛋白可能在组织中结合金属。诊断可根据临床表现提示，并通过凯-弗环的存在得以证实。在没有这些表现时，生化测定是必要的。其中最重要的是血清铜蓝蛋白、尿铜以及活检时的肝脏铜浓度。治疗包括给予铜螯合剂青霉胺，并避免高铜摄入。如果尚未发生不可逆的组织损伤，这通常会使临床症状显著改善。为了维持负铜平衡，终身维持治疗是必要的。对无症状的患病个体进行检测和预防性治疗尤为重要。现报告7例威尔逊病病例，以说明所讨论的许多特征，重点是眼部表现。
