Leber's Hereditary Optic Neuropathy with Dystonia Caused by mtDNA 11778 Mutation

ABSTRACT

Several mtDNA mutations have been reported in Leber's hereditary optic neuropathy (LHON) associated with dystonia since it was identified as having the 14459 mutation. We report a patient with LHON and dystonia and his family. The patient presented with a slowly progressive bilateral visual loss and generalized dystonia. Brain MRI showed abnormal signal changes in both putamina. The 11778 mutation was confirmed by a Sfa I restriction digestion test. We found, in the literature, only one case of the 11778 mutation associated with dystonia, although it is one of the most common mutations in LHON. Our case suggests that the 11778 mutation should be taken into consideration in the pathogenesis of LHON associated with dystonia.