Visual involvement in Friedreich's ataxia and hereditary spastic ataxia. A clinical and visual evoked response study

I. R. Livingstone, F. L. Mastaglia, R. Edis and J. W. Howe

Visual involvement was assessed in 21 patients with Friedreich's ataxia and in 17 patients with spastic ataxia by neuro-ophthalmic examination and by recording visual evoked responses (VERs). Two thirds of the patients with Friedreich's ataxia had some degree of visual impairment and an abnormal VER, whereas only three of the 17 patients with spastic ataxia showed abnormalities. The patients with Friedreich's ataxia could be subdivided into two groups, one with and the other without visual involvement; there was no correlation between the presence and severity of visual involvement and age or duration of symptoms in the group as a whole. Patients with the most severe degrees of visual impairment usually had flat VERs, whereas in less severely affected cases, the responses were reduced in amplitude, were delayed, and showed an increased degree of temporal dispersion. The findings have pathophysiological implications and raise the question of heterogeneity in Friedreich's ataxia.