Login / Signup

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

Ungsoo Samuel KimJeong Seop Yun
Published in: Seminars in ophthalmology (2024)
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.
Keyphrases
  • end stage renal disease
  • newly diagnosed
  • chronic kidney disease
  • ejection fraction
  • peritoneal dialysis
  • oxidative stress
  • insulin resistance
  • skeletal muscle