Mitochondria and the eye-manifestations of mitochondrial diseases and their management

Eye (Lond). 2023 Aug;37(12):2416-2425. doi: 10.1038/s41433-023-02523-x. Epub 2023 Apr 25.


Historically, distinct mitochondrial syndromes were recognised clinically by their ocular features. Due to their predilection for metabolically active tissue, mitochondrial diseases frequently involve the eye, resulting in a range of ophthalmic manifestations including progressive external ophthalmoplegia, retinopathy and optic neuropathy, as well as deficiencies of the retrochiasmal visual pathway. With the wider availability of genetic testing in clinical practice, it is now recognised that genotype-phenotype correlations in mitochondrial diseases can be imprecise: many classic syndromes can be associated with multiple genes and genetic variants, and the same genetic variant can have multiple clinical presentations, including subclinical ophthalmic manifestations in individuals who are otherwise asymptomatic. Previously considered rare diseases with no effective treatments, considerable progress has been made in our understanding of mitochondrial diseases with new therapies emerging, in particular, gene therapy for inherited optic neuropathies.

摘要: 从历史上来看, 不同的线粒体疾病的症状在临床上可由眼科表现识别。由于线粒体与代谢活跃组织相关, 疾病常累及眼部, 导致一系列的眼部表现, 包括进行性眼外肌麻痹、视网膜视神经病变, 以及视交叉后路缺陷。随着基因检测在临床实践中的广泛应用, 研究人员已意识到线粒体疾病中的基因型-表型相关性可能不精确: 很多典型症状可能与多个基因和基因突变相关, 并且相同的基因突变可能有多种临床表现, 包括无症状者的亚临床表现。线粒体疾病之前认为是无有效治疗方法的罕见病, 随着新治疗方法的出现, 我们对线粒体疾病的理解取得了较大进步, 尤其表现在遗传性视神经病变的基因治疗。.

Publication types

  • Review

MeSH terms

  • Humans
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Mitochondrial Diseases* / diagnosis
  • Mitochondrial Diseases* / genetics
  • Mitochondrial Diseases* / therapy
  • Optic Nerve Diseases* / complications
  • Retinal Diseases* / complications
  • Syndrome