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

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.