The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

Frontiers in Neuroscience
Sonia EmperadorEduardo Ruiz-Pesini

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.

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Citations

Jul 12, 2020·Human Mutation·Lee-Jun C WongWilliam J Craigen
Jul 19, 2019·Translational Vision Science & Technology·Shouqing LiBaojiang Wang
Jan 9, 2020·Clinical Genetics·Ester López-GallardoEduardo Ruiz-Pesini
Jul 29, 2019·Journal of the Neurological Sciences·Shalini ManiM V Kranthi Kumar
Feb 28, 2020·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Tyler BahrYidong Bai
Nov 14, 2020·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Srilekha SundaramurthyPatrick Yu-Wai-Man

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Datasets Mentioned

BETA
MG386502

Methods Mentioned

BETA
reverse transcription-PCR
biopsy

Software Mentioned

StatView
Mitoclass
PolyPhen
MutPred
RasMol

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