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Leber Hereditary Optic Neuropathy

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Joseph Kim, NORD Intern from the University of Notre Dame, and Alfredo A. Sadun, MD, PhD, Flora Thornton Professor of Vision Research, Vice-Chair Ophthalmology, Chief of Service, Neuro-Ophthalmology, Professor of Neuro-surgery, Keck-USC School of Medicine, for assistance in the preparation of this report.

Synonyms of Leber Hereditary Optic Neuropathy

  • Leber's optic atrophy
  • Leber's optic neuropathy
  • LHON

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Leber hereditary optic neuropathy (LHON) is mainly characterized by bilateral, painless subacute loss of central vision during young adult life. In most cases, symptoms begin with one eye first, followed a few weeks later by visual failure in the other eye. Extremely rarely there may be neurologic abnormalities, such as peripheral neuropathy, postural tremor, nonspecific myopathy, and movement disorders. LHON is caused by mutations in mitochondrial DNA and it is transmitted by maternal inheritance. LHON affects approximately 1:50,000 people. Many carriers never suffer significant visual loss; males are about four to five times more likely than females to be affected.

Organizations related to Leber Hereditary Optic Neuropathy

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