Visual evoked potential changes in asymptomatic children with biotinidase deficiency

Neuro- and neuro-ophthalmological symptoms are common in patients with biot inidase deficiency, an autosomal, recessively inherited inborn error of met abolism. Visual impairment and prolonged latencies in visual evoked potenti als (VEPs) were reported in patients suffering from this metabolic disease. Pathological changes in VEPs may be a sign of beginning damage of the cent ral nervous system, such as optic atrophy or myopia. We present the results of VEP measurements in 12 children living in Austria. None of these indivi duals had clinical symptoms. However, 9 of the 12 examined patients had pro longed latencies and/or deformation of the component P2. No correlation was found between residual biotinidase activity and the data obtained from VEP examinations. Visual evoked potentials might be a useful diagnostic tool f or early detection of visual impairment in asymptomatic patients with bioti nidase deficiency.