Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/124024
Title: | The Decrease In Mitochondrial DNA Mutation Load Parallels Visual Recovery In A Leber Hereditary Optic Neuropathy Patient |
Author: | 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 |
Keywords: | Oftalmopaties ADN mitocondrial Eye diseases Mitochondrial DNA |
Issue Date: | 9-Feb-2018 |
Publisher: | Frontiers Media |
Abstract: | 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. |
Note: | Reproducció del document publicat a: http://dx.doi.org/10.3389/fnins.2018.00061 |
It is part of: | Frontiers in Neuroscience, 2018, vol. 12 |
URI: | http://hdl.handle.net/2445/124024 |
Related resource: | http://dx.doi.org/10.3389/fnins.2018.00061 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
EmperadorS.pdf | 1.46 MB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License