69455 20200217133050.0 doi 10.3389/fnins.2018.00061 sideral 104581 ART-2018-104581 eng (orcid)0000-0001-5964-6138 Emperador, S. Universidad de Zaragoza The decrease in mitochondrial DNA mutation load parallels visual recovery in a Leber hereditary optic neuropathy patient 2018 Access copy available to the general public Unrestricted 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. info:eu-repo/grantAgreement/ES/MICINN-ISCIII-ERDF/RETICS-RD12-0005 info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021 info:eu-repo/grantAgreement/ES/FIS/PI14-00070 info:eu-repo/grantAgreement/ES/FIS/PI14-00028 info:eu-repo/grantAgreement/ES/FIS/PI14-00005 info:eu-repo/grantAgreement/ES/DGA/B33 info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 3.648 2018 NEUROSCIENCES 91 / 266 = 0.342 2018 Q2 T2 1.665 2018 Neuroscience (miscellaneous) 2018 Q1 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Vidal, M. (orcid)0000-0003-3524-5158 Hernández-Ainsa, C. Universidad de Zaragoza Ruiz-Ruiz, C. Woods, D. Morales-Becerra, A. Arruga, J. Artuch, R. (orcid)0000-0002-3217-1424 López-Gallardo, E. Universidad de Zaragoza (orcid)0000-0002-8585-6371 Bayona-Bafaluy, M.P. Universidad de Zaragoza (orcid)0000-0003-1770-6299 Montoya, J. Universidad de Zaragoza (orcid)0000-0002-0269-7337 Ruiz-Pesini, E. Universidad de Zaragoza 1003 443 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Histología 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 12, FEB (2018), 610 [8 pp] Front. neurosci. Frontiers in neuroscience 1662-4548 255212 http://zaguan.unizar.es/record/69455/files/texto_completo.pdf Versión publicada 11420 http://zaguan.unizar.es/record/69455/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:69455 articulos driver 2020-02-17-12:42:29 ARTICLE