Visual evoked response abnormality in myoclonus epilepsy with large pupils. Occurrence in a family with acorpuscular myoclonus epilepsy

C. W. Hess, O. Meienberg, S. Muff, V. Verones and H. P. Ludin

Flash and pattern evoked responses were recorded from three siblings with myoclonus epilepsy who all had strikingly large pupils in daylight. Comparison with the visual evoked responses (VERs) of 15 normal and eight epileptic control subjects (including one with myoclonus epilepsy but normal pupils) disclosed a substantial reduction of the amplitude of the flash response as compared with the normal pattern response in these three patients. It is suggested that the VER constellation and the pupillary abnormality, together with the normal electroretinogram and diffusely distributed relative scotomas, were due to a ganglion cell loss in the retina.