2026-04-13T13:10:15Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1240242025-11-20T15:01:34Zcom_2072_1057col_2072_478916col_2072_478917

The Decrease In Mitochondrial DNA Mutation Load Parallels Visual Recovery In A Leber Hereditary Optic Neuropathy Patient Emperador, Sonia Vidal, Mariona Hernández Ainsa, Carmen Ruiz Ruiz, Cristina Woods, Daniel Morales Becerra, Ana Arruga Ginebreda, Jordi Artuch Iriberri, Rafael López Gallardo, Ester Bayona Bafaluy, M. Pilar Montoya, Julio Ruiz Pesini, Eduardo Oftalmopaties ADN mitocondrial Eye diseases Mitochondrial DNA 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. 2018-07-27T11:24:09Z 2018-07-27T11:24:09Z 2018-02-09 2018-07-24T11:47:55Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Reproducció del document publicat a: http://dx.doi.org/10.3389/fnins.2018.00061 Frontiers in Neuroscience, 2018, vol. 12 http://dx.doi.org/10.3389/fnins.2018.00061 cc by (c) Emperador et al., 2018 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess Frontiers Media Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))