Introduction: Leber hereditary optic neuropathy (LHON) complicated with extraocular symptoms is called LHON plus. We describe a case of LHON plus with a rare mutation, which also caused dystonia.
Case Presentation: An 18-year-old male patient developed symptoms of dystonia at the age of 15 years.
Electrical stimulation (ES) may be effective for intractable retinal or optic nerve diseases. We studied frequent transcutaneous ES in a single-center, single-arm prospective study in patients with Leber hereditary optic neuropathy (LHON) who carry the mitochondrial (mt) 11778 G > A mutation. A 30-min ES was applied to either eye every other day for 12 weeks.
View Article and Find Full Text PDF