Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation

J Neuroophthalmol. 2019 Mar;39(1):56-59. doi: 10.1097/WNO.0000000000000644.


Objective: To assess quality of life (QoL) measures in Chinese Leber hereditary optic neuropathy (LHON) patients with the G11778A mutation.

Methods: Chinese LHON patients with the G11778A mutation were prospectively evaluated using the Visual Function Index (VF-14) at 6 months, 1 year, and 3 years after the involvement of the second eye. Patients who completed the VF-14 at all 3 follow-up time designations were included in the analysis.

Results: Fifty-five patients met the inclusion criteria. The median age of patients when their vision was bilaterally affected was 16.3 years old (interquartile range: 13.9-18.3 years). In our patient cohort, 89.1% (n = 49) were male, and the ratio of males to females was 8.2:1. The median logMAR visual acuity was 2.0 (interquartile range: 1.0-2.6). The mean VF-14 scores of patients with LHON at 6-month, 1-year, and 3-year follow-ups were 18.0 ± 19.2 (range 0-85.4), 19.9 ± 20.0 (range 0-85.4), and 20.7 ± 20.2 (range 0-85.4), and the differences were statistically significant (P < 0.001). VF-14 score at 6 months was significantly correlated with visual acuity of the better eye (P < 0.001) but not with age of onset (P = 0.43). Overall, the QoL improvement was significantly correlated with age of onset (P = 0.006) but not with visual acuity of the better eye (P = 0.134). Several abilities were significantly improved at the 1-year follow-up compared with the 6-month follow-up, including seeing steps, curbs, or stairs (P < 0.01), doing handiwork (P < 0.05), playing sports (P < 0.05), cooking (P < 0.01), and watching television (P < 0.05). When these scores were further compared between 1- and 3-year follow-ups, only scores for cooking (P < 0.05) and watching television (P < 0.05) were higher at the 3-year follow-up than that at the 1-year follow-up. No changes were found during the follow-up for reading small print, reading a newspaper or book, or reading signs.

Conclusions: Our results indicate that although most of our Chinese LHON patients with the G11778A mutation had permanent central visual loss, visual-related quality of life improved over time, especially in younger patients.

MeSH terms

  • Adolescent
  • China / epidemiology
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Disease Progression
  • Female
  • Follow-Up Studies
  • Humans
  • Incidence
  • Male
  • Mutation*
  • Optic Atrophy, Hereditary, Leber / diagnosis
  • Optic Atrophy, Hereditary, Leber / epidemiology
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Optic Disk / pathology
  • Pedigree
  • Prospective Studies
  • Quality of Life*
  • Time Factors
  • Tomography, Optical Coherence
  • Visual Acuity*


  • DNA, Mitochondrial