Berninger T A, von Meyer L, Siess E, Schon O, Goebel F D
University Eye Hospital, Munich, West Germany.
Br J Ophthalmol. 1989 Apr;73(4):314-6. doi: 10.1136/bjo.73.4.314.
We studied one patient with Leber's optic atrophy (LOA) in the acute stage and 12 at the chronic stage of the disease, and measured the activity of rhodanese in white blood cells and the level of cyanide in whole blood. In the patient with acute disease the blood cyanide level was significantly increased at first. Treatment of this patient with cyanide antagonists reduced his cyanide level, but this was not accompanied by improvement in visual function. Rhodanese activity was normal in all patients, as were the blood cyanide levels in each of the 12 patients at the chronic stage of the disease. These findings suggest a temporary disturbance of cyanide metabolism during the acute phase of the disease in this family. The abnormal metabolic mechanism was not identified.
我们研究了1例处于急性阶段的莱伯遗传性视神经萎缩（LOA）患者和12例处于疾病慢性阶段的患者，测量了白细胞中硫氰酸酶的活性以及全血中氰化物的水平。在急性病患者中，血液氰化物水平起初显著升高。用氰化物拮抗剂治疗该患者可降低其氰化物水平，但这并未伴随视觉功能的改善。所有患者的硫氰酸酶活性均正常，疾病慢性阶段的12例患者的血液氰化物水平也均正常。这些发现提示，在这个家族中，疾病急性期存在氰化物代谢的暂时紊乱。异常的代谢机制尚未明确。
