Hereditary optic neuropathies result from defects in the human genome, both nuclear and mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy and Leber hereditary optic neuropathy. Advances in modern molecular diagnosis have expanded our knowledge of genotypes and phenotypes of inherited disorders that affect the optic nerve, either alone or in combination, with various forms of neurological and systemic degeneration. A unifying feature in the pathophysiology of these disorders appears to involve mitochondrial dysfunction, suggesting that the retinal ganglion cells and their axons are especially susceptible to perturbations in mitochondrial homoeostasis. As we better understand the pathogenesis behind these genetic diseases, aetiologically targeted therapies are emerging and entering into clinical trials, including treatments aimed at halting the cascade of neurodegeneration, replacing or editing the defective genes or their protein products, and potentially regenerating damaged optic nerves, as well as preventing generational disease transmission.

遗传性视神经病变是由人类基因组（包括核和线粒体）的缺陷引起的。两种主要和最公认的表型是显性视神经萎缩和 Leber 遗传性视神经病变。现代分子诊断的进步扩大了我们对影响视神经的遗传性疾病的基因型和表型的认识，无论是单独的还是与各种形式的神经和系统退化的组合。这些疾病的病理生理学的一个统一特征似乎涉及线粒体功能障碍，这表明视网膜神经节细胞及其轴突特别容易受到线粒体稳态扰动的影响。随着我们更好地了解这些遗传疾病背后的发病机制，针对病因的靶向疗法正在出现并进入临床试验，