The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient
نویسندگان
چکیده
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.
منابع مشابه
Variable pattern of visual recovery of Leber's hereditary optic neuropathy.
AIMS To investigate pattern of visual recovery of nine patients with Leber's hereditary optic neuropathy (LHON) and a mitochondrial DNA mutation at 11778. METHODS Recovery was judged significant when a gain of two lines or more in the Landolt ring chart, 10 dB or more improvement of the mean deviation of static perimetry, or improvement of critical flicker frequency (CFF) over 35 Hz was shown...
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