Journal of Neuro-Ophthalmology, March 2007, Volume 27, Issue 1

05_Ocular Motor Disorders in Mitochondrial Encephalopathy, Lactic Acid and Stroke-Like Episodes, 3271 Point Mutation in Mitochondrial DNA.pdf

BACKGROUND: Ocular motor function can provide insights into areas of dysfunction within the nervous system. There are no published eye movement recordings in patients with mitochondrial encephalopathy with lactic acid and stroke-like episodes (MELAS). Our purpose in this study was to analyze the ocular motor features of a family with MELAS with a (T-C) mutation at nucleotide position 3271 in the mitochondrial tRNA-Leu gene. METHODS: The search coil method was used to record visually-guided saccades, antisaccades, and triangular pursuit tasks in the horizontal and vertical planes in three patients in a Japanese family with MELAS. RESULTS: The patients showed saccadic dysmetria and prolonged saccadic reaction times, deficits in the ability to suppress reflex eye movements, and increased reaction time during antisaccades, downbeat nystagmus, square wave jerks, and impairment in pursuit. CONCLUSIONS: On the basis of eye movement recordings, patients with MELAS have frontal cortex as well as cerebellar dysfunction.