Electrophysiological exploration of visual function in mitochondrial diseases

In a group of 10 children (ranging from 5 months to 15 years old) affected by diseases with mitochondrial dysfunction, 4 suffered from mitochondrial myopathy, 4 from mitochondrial encephalopathy and 2 from Friedreich's ataxia. The clinically detectable visual impairment consisted of 3 grey ocular fundi (the other 7 were normal) associated, in 2 subjects, with a mild nystagmus. Electrophysiological assessment, consisting of ERGs and flash VEPs, was systematically performed. The normal ERGs in all subjects confirmed the normal functioning of retinal electrogenesis. In contrast, the VEPs of 6 out of 10 subjects were modified: in 2 of the 4 subjects with mitochondrial myopathy, the VEPs had a hyperamplitude; in the 2 subjects with Friedreich's ataxia, the implicit time of the principal VEP peaks was increased, together with a hyperamplitude in 1 case; lastly, in 2 of the 4 subjects with mitochondrial encephalopathy, the VEPs were altered. These modifications reflected visual pathway conduction disorders with no clinical expression. Various underlying pathophysiological mechanisms possibly responsible for these modifications are discussed.