Clinical Characteristics of m.11778G>A Leber Hereditary Optic Neuropathy with Favorable Outcomes

Abstract

ABSTRACT The prognosis of 11,778 mitochondrial mutations in Leber hereditary optic neuropathy (LHON) is poor. Patients with favorable outcomes (visual acuity better than 20/100) who could be observed for more than 6 months were analyzed. Among 74 patients (57 male, 17 female), 6 (8.1%) showed improvement in visual acuity of 20/100 or higher. The patients with favorable outcomes have better visual acuity at nadir (logMAR 0.98 ± 0.69 in the favorable patients and logMAR 2.32 ± 0.93 in the unfavorable patients, p = .003). Among the favorable group, four patients (36, 32, 19, and 7 years of age at onset) took idebenone within 6 months of onset. However, fifty-one percent of the patients with unfavorable outcomes took idebenone (p = .008). Although the age at onset in the favorable patients is relatively younger than that of the unfavorable patients (20.3 ± 10.8 versus 28.8 ± 12.8 years), a significant difference was not found (p = .138). In conclusion, better visual acuity in nadir and administration of idebenone may affect vision recovery.