Neuro-ophthalmology of mitochondrial diseases

Semin Neurol. 2001 Sep;21(3):275-91. doi: 10.1055/s-2001-17945.


The afferent and efferent visual pathways within the central nervous system are frequently involved in mitochondrial diseases. Neuro-ophthalmic signs figure prominently and may be the presenting or even sole manifestation of these disorders. The four most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and retrochiasmal visual loss.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Education, Medical, Continuing
  • Humans
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / pathology*
  • Optic Nerve Diseases / etiology
  • Optic Nerve Diseases / pathology*
  • Retinal Diseases / etiology
  • Retinal Diseases / pathology*