Hereditary optic neuropathies: from the mitochondria to the optic nerve

Am J Ophthalmol. 2005 Sep;140(3):517-23. doi: 10.1016/j.ajo.2005.03.017.


Purpose: To review our current knowledge of inherited optic neuropathies.

Design: Perspective.

Methods: Literature review.

Results: The hereditary optic neuropathies consist of a group of disorders in which optic nerve dysfunction figures solely or prominently and direct inheritance is clinically or genetically proven. The most common of these disorders are autosomal dominant optic atrophy (Kjers' disease) and maternally-inherited Leber's hereditary optic neuropathy. Other inherited neurologic and systemic syndromic diseases will frequently manifest optic neuropathy. A selective vulnerability of the optic nerve to perturbations in mitochondrial function may underlie a final common pathway among these disorders.

Conclusions: The ophthalmologist should be familiar with the clinical characteristics and diagnosis of the hereditary optic neuropathies. Recent advances in our understanding of the underlying pathophysiology of the inherited optic neuropathies may provide insight into their treatment and the treatment of acquired optic nerve disorders.

Publication types

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

MeSH terms

  • Humans
  • Mitochondria / pathology*
  • Optic Atrophy, Autosomal Dominant / complications*
  • Optic Atrophy, Autosomal Dominant / diagnosis
  • Optic Atrophy, Autosomal Dominant / therapy
  • Optic Atrophy, Hereditary, Leber / complications*
  • Optic Atrophy, Hereditary, Leber / diagnosis
  • Optic Atrophy, Hereditary, Leber / therapy
  • Optic Nerve / pathology*