Late-onset Leber hereditary optic neuropathy

Clin Exp Ophthalmol. 2013 Sep-Oct;41(7):690-3. doi: 10.1111/ceo.12091. Epub 2013 Apr 11.

Abstract

Background: While Leber hereditary optic neuropathy typically causes bilateral visual loss in the second through fourth decades, we highlight visual loss from Leber hereditary optic neuropathy in older patients to characterize the clinical features of this cohort.

Design: Retrospective case series.

Participants: Patients seen between January 2003 and July 2012 at Baylor College of Medicine and between April 2010 and July 2012 at The Methodist Hospital in Houston, Texas.

Methods: Patients with visual loss from genetically confirmed Leber hereditary optic neuropathy were identified via retrospective chart review.

Main outcome measures: Clinical courses of patients.

Results: Five patients with visual loss from genetically confirmed Leber hereditary optic neuropathy were greater than 60 years of age at the time of visual loss (range 62-70 years, mean 66.4 ± 3.0).

Conclusion: This series reinforces the importance of including Leber hereditary optic neuropathy in the differential diagnosis of patients of any age with optic neuropathy.

Keywords: Leber hereditary optic neuropathy; neuro-ophthalmic disease; optic neuropathy mitochondrial DNA.

MeSH terms

  • Aged
  • DNA, Mitochondrial / genetics
  • Diagnosis, Differential
  • Disease Progression
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Optic Atrophy, Hereditary, Leber / diagnosis*
  • Optic Atrophy, Hereditary, Leber / genetics
  • Point Mutation
  • Retrospective Studies
  • Tomography, X-Ray Computed
  • Vision Disorders / diagnosis*
  • Vision Disorders / genetics
  • Visual Acuity / physiology

Substances

  • DNA, Mitochondrial