The decrease in mitochondrial DNA mutation load parallels visual recovery in a Leber hereditary optic neuropathy patient

The onset of Leber hereditary optic neuropathy is relatively rare in childhood and, interestingly, the rate of spontaneous visual recovery is very high in this group of patients. Here, we report a child harboring a rare pathological mitochondrial DNA mutation, present in heteroplasmy, associated wit...

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Detalles Bibliográficos
Autores: Emperador, S., Vidal, M., Hernández-Ainsa, C., Ruiz-Ruiz, C., Woods, D., Morales-Becerra, A., Arruga, J., Artuch, R., López-Gallardo, E., Bayona-Bafaluy, M.P., Montoya, J., Ruiz-Pesini, E.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:España
Institución:Universidad de Zaragoza
Repositorio:Zaguán. Repositorio Digital de la Universidad de Zaragoza
OAI Identifier:oai:zaguan.unizar.es:69455
Acceso en línea:http://zaguan.unizar.es/record/69455
Access Level:acceso abierto
Descripción
Sumario:The onset of Leber hereditary optic neuropathy is relatively rare in childhood and, interestingly, the rate of spontaneous visual recovery is very high in this group of patients. Here, we report a child harboring a rare pathological mitochondrial DNA mutation, present in heteroplasmy, associated with the disease. A patient follow-up showed a rapid recovery of the vision accompanied by a decrease of the percentage of mutated mtDNA. A retrospective study on the age of recovery of all childhood-onset Leber hereditary optic neuropathy patients reported in the literature suggested that this process was probably related with pubertal changes.

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