Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation

BMC Ophthalmol. 2017 Oct 18;17(1):192. doi: 10.1186/s12886-017-0583-3.

Abstract

Background: Patients with Leber hereditary optic neuropathy (LHON) have a progressive decrease of their visual acuity which can deteriorate to <0.1. Some patients can have a partial recovery of their vision in one or both eyes. One prognostic factor associated with a recovery of vision is an early-age onset. The purpose of this study was to determine other clinical factors that are predictive of a good visual recovery.

Methods: Sixty-one Japanese LHON patients, with the 11,778 mutation and a mean age of 23.1 ± 12.1 years at the onset, were studied. All patients were initially examined at an acute stage of LHON and were followed for 3 to 10 years. At 1 year after the onset, the lowest visual acuity was <0.1 in all eyes. We studied the following parameters of patients with/without a final visual acuity of ≥ 0.2: sex; heavy consumption of cigarettes and alcohol; taking idebenone; mean age at onset; mean lowest visual acuity; and distribution of the lowest and the final visual acuity.

Results: Fifteen (24.6%) of the 61 patients or 25 (20.5%) of the 122 eyes had a recovery of their visual acuity to ≥ 0.2. The mean age at onset of these 15 patients with visual recovery to ≥ 0.2 was 17.5 ± 7.7 years, and that of the 46 patients without visual recovery to ≥ 0.2 was 25.0 ± 12.8 years (P = 0.02, Mann-Whitney U test). The mean lowest visual acuity of the 25 eyes with visual recovery ≥ 0.2 was 0.04, and that of the 97 eyes without visual recovery to ≥ 0.2 was 0.015 (P < 0.001, Mann-Whitney U test). Fifty percent (15/30) of the eyes whose lowest visual acuity was ≥ 0.04 during 1 year after the onset had a visual recovery to ≥ 0.2, while 11% (10/92) of the eyes whose the lowest visual acuity was ≤ 0.03 had a visual recovery to ≥ 0.2 (P < 0.001, χ 2 test). There were no significant differences in the other clinical factors.

Conclusion: A final visual acuity of ≥ 0.2 was associated with a less severe reduction of the visual acuity at 1 year after the onset. Our findings can be used to predict the visual prognosis in LHON patients.

Keywords: 11,778 mutation; Japanese; Leber hereditary optic neuropathy; Lowest visual acuity; Visual recovery.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Antioxidants / therapeutic use*
  • Ascorbic Acid / therapeutic use*
  • Child
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Middle Aged
  • Optic Atrophy, Hereditary, Leber / drug therapy
  • Optic Atrophy, Hereditary, Leber / genetics
  • Optic Atrophy, Hereditary, Leber / physiopathology*
  • Point Mutation
  • Polymerase Chain Reaction
  • Prognosis
  • Recovery of Function / physiology
  • Retrospective Studies
  • Riboflavin / therapeutic use
  • Ubiquinone / analogs & derivatives*
  • Ubiquinone / therapeutic use
  • Vision Disorders / drug therapy
  • Vision Disorders / genetics
  • Vision Disorders / physiopathology*
  • Visual Acuity / physiology*
  • Visual Field Tests
  • Vitamin B Complex / therapeutic use
  • Young Adult

Substances

  • Antioxidants
  • DNA, Mitochondrial
  • Vitamin B Complex
  • Ubiquinone
  • idebenone
  • Ascorbic Acid
  • Riboflavin