ADENOSINE-TRIPHOSPHATE DEFICIENCY - A GENRE OF OPTIC NEUROPATHY
ADENOSINE-TRIPHOSPHATE DEFICIENCY - A GENRE OF OPTIC NEUROPATHY
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DOI：
10.1212/wnl.45.1.11
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发表时间：
1995-01-01
期刊：
影响因子：
9.9
通讯作者：
RIZZO, JF
中科院分区：
文献类型：
--
作者：
RIZZO, JF
目的：为维生素B-12缺乏对伴有14,484个线粒体DNA突变的Leber遗传性视神经病变(LHON)患者的神经功能损害提供临床证据。方法：报告一例27岁男性患者，患有维生素B-12缺乏和线粒体DNA 14,484突变，并对一些代谢性视神经病变的病因进行文献复习。结果：维生素B-12缺乏同时出现视力丧失和神经系统症状，此时维生素B-12水平低于正常水平。在维生素治疗后的2个月内，视力和其他感觉功能开始改善，最终恢复了正常视力。结论：维生素替代治疗后视力的相对迅速改善和最终完全恢复表明，维生素B-12水平低于正常水平加速了视力丧失。鉴于维生素B-12、LHON和营养性/烟草弱视的临床相似性，三磷酸腺苷缺乏可能是几种类型视神经病变的统一病因。这一能量假说为解释中枢暗点的神秘现象和长期失明后视功能的恢复提供了理论依据。
Purpose: To offer clinical evidence that deficiency of vitamin B-12 may adversely affect the neuronal function of patients who also have the 14,484 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy (LHON). Methods: A case of a 27-year-old man with vitamin B-12 deficiency and the 14,484 mitochondrial DNA mutation is presented and the literature on causes of some metabolic optic neuropathies reviewed. Results: Visual loss and neurologic symptoms of vitamin B-12 deficiency occurred together, at a time when the level of vitamin B-12 was subnormal. Vision and other sensory functions began to improve within 2 months of vitamin therapy, and normal vision eventually was restored. Conclusions: The relatively prompt improvement and the eventual complete recovery of vision following vitamin replacement therapy suggest that; the subnormal level of vitamin B-12 precipitated visual loss. Given the clinical similarities of subnormal vitamin B-12, LHON, and nutritional/tobacco amblyopia, deficiency of adenosine triphosphate might be a unifying etiology for several types of optic neuropathy. This energy hypothesis provides a theoretical basis for the enigmatic phenomena of centrocecal scotomata and recovery of visual function after prolonged blindness.