Mitochondrial disorders and the eye

Surv Ophthalmol. 2020 May-Jun;65(3):294-311. doi: 10.1016/j.survophthal.2019.11.001. Epub 2019 Nov 27.


Mitochondria are cellular organelles that play a key role in energy metabolism and oxidative phosphorylation. Malfunctioning of mitochondria has been implicated as the cause of many disorders with variable inheritance, heterogeneity of systems involved, and varied phenotype. Metabolically active tissues are more likely to be affected, causing an anatomic and physiologic disconnect in the treating physicians' mind between presentation and underlying pathophysiology. We shall focus on disorders of mitochondrial metabolism relevant to an ophthalmologist. These disorders can affect all parts of the visual pathway (crystalline lens, extraocular muscles, retina, optic nerve, and retrochiasm). After the introduction reviewing mitochondrial structure and function, each disorder is reviewed in detail, including approaches to its diagnosis and most current management guidelines.

Keywords: Eye; Kearns Sayre Syndrome; Leber hereditary optic neuropathy; MELAS; chronic progressive external ophthalmoplegia; dominant optic atrophy; mitochondria.

Publication types

  • Review

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Eye Diseases / genetics*
  • Humans
  • Mitochondria / genetics*
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics


  • DNA, Mitochondrial