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April 10, 2014: Leber’s Hereditary Optic Neuropathy

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APRIL 10, 2014

Leber’s Hereditary Optic Neuropathy (LHON) is a genetic disorder secondary to mutations in mitochondrial DNA. The prevalence of LHON is estimated at 1/50,000 and it has a variable penetrance, though more common in men (1). The onset of bilateral, painless central visual loss, occurs most often in the late teens and twenties, and can range from eight to 60 years of age (1). Visual loss may be associated with tremor, dystonia, peripheral neuropathy, and seizures (1-2). In an investigation of over 350 patients with LHON, disease progression was dependent on the underlying genetic mutation, though nearly 90% had a severe and rapid decline to a visual acuity of less than 20/200 over 21 days (2). While 44% of patients have later improvement in visual acuity, this can take years to manifest. 

References

  1. Newman NJ, Lott MT, Wallace DC.  Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol 2006; 141: 676-676.e8.
  2. Chalmers, RM, Harding AE. A case-control study of Leber’s hereditary optic neuropathy. Brain 1996; 119: 1481-1486. 

    Submitted by: Adam Numis, MD.

    Dr. Numis is a member of the Resident and Fellow Section of Neurology.

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