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Clinical Characteristics of m.11778G>A Leber Hereditary Optic Neuropathy with Favorable Outcomes.
Samuel Kim, Ungsoo; Yun, Jeong Seop.
Afiliación
  • Samuel Kim U; Kim's Eye Hospital, Seoul, Republic of Korea.
  • Yun JS; Department of Ophthalmology, Chung-Ang University, Gwangmyeong-si, Gyeonggi-do, Republic of Korea.
Semin Ophthalmol ; 39(4): 320-323, 2024 May.
Article en En | MEDLINE | ID: mdl-38420942
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Óptica Hereditaria de Leber Límite: Adolescent / Adult / Female / Humans / Infant / Male Idioma: En Revista: Semin Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2024 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Óptica Hereditaria de Leber Límite: Adolescent / Adult / Female / Humans / Infant / Male Idioma: En Revista: Semin Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2024 Tipo del documento: Article Pais de publicación: Reino Unido