2026-04-17T22:50:31Zhttps://recercat.cat/oai/request

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

00925njm 22002777a 4500 dc Emperador, Sonia author Vidal, Mariona author Hernández Ainsa, Carmen author Ruiz Ruiz, Cristina author Woods, Daniel author Morales Becerra, Ana author Arruga Ginebreda, Jordi author Artuch Iriberri, Rafael author López Gallardo, Ester author Bayona Bafaluy, M. Pilar author Montoya, Julio author Ruiz Pesini, Eduardo author 2018-07-27T11:24:09Z 2018-07-27T11:24:09Z 2018-02-09 2018-07-24T11:47:55Z 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. Oftalmopaties ADN mitocondrial Eye diseases Mitochondrial DNA The Decrease In Mitochondrial DNA Mutation Load Parallels Visual Recovery In A Leber Hereditary Optic Neuropathy Patient