Oliveira Cristiano
Continuum (Minneap Minn). 2019 Oct;25(5):1265-1288. doi: 10.1212/CON.0000000000000769.
The diagnosis of visual loss from toxic-metabolic and hereditary optic neuropathies may be delayed in some cases because of a failure to elicit important information in the clinical history or to recognize typical examination findings. An understanding of the features specific to each type of toxic-metabolic and hereditary optic neuropathy, and of the underlying mechanism of insult to the optic nerve, could lead to earlier recognition, diagnosis, and treatment (when available).
Understanding of the role of mitochondria in toxic-metabolic and hereditary optic neuropathies is growing, particularly regarding the mechanism of insult of certain agents (medications and toxins) and of vitamin B12 deficiency. New developments in the quest for treatment for hereditary optic neuropathy, specifically Leber hereditary optic neuropathy, are being seen.
Toxic-metabolic and hereditary optic neuropathies present in a similar fashion, with painless, progressive, bilateral visual loss with dyschromatopsia and cecocentral visual field defects. The associated retinal ganglion cell and axonal loss is typically due to mitochondrial dysfunction caused by an exogenous agent (toxic), by insufficient or deficient substrate (metabolic or nutritional), or by abnormal proteins or mitochondrial structure determined by a genetic mutation (hereditary).
在某些情况下，由于未能从临床病史中获取重要信息或识别典型的检查结果，中毒 - 代谢性和遗传性视神经病变导致的视力丧失诊断可能会延迟。了解每种中毒 - 代谢性和遗传性视神经病变的特异性特征以及视神经损伤的潜在机制，可能有助于更早地识别、诊断和治疗（如果有可用的治疗方法）。
人们对线粒体在中毒 - 代谢性和遗传性视神经病变中的作用的认识不断增加，特别是关于某些药物（药物和毒素）和维生素B12缺乏的损伤机制。在遗传性视神经病变，特别是Leber遗传性视神经病变的治疗探索方面有了新进展。
中毒 - 代谢性和遗传性视神经病变的表现相似，有无痛性、进行性、双侧视力丧失，伴有色觉异常和中心暗点性视野缺损。相关的视网膜神经节细胞和轴突损失通常是由于外源性物质（中毒）、底物不足或缺乏（代谢或营养）或基因突变（遗传性）导致的异常蛋白质或线粒体结构引起的线粒体功能障碍所致。
