Author/Authors :
Knezevic, Tatjana University Childrens Hospital - Physical Medicine and Rehabilitation, Serbia , Petronic, Ivana University of Belgrade - Faculty of Medicine, Serbia , Nikolic, Dejan University Childrens Hospital - Physical Medicine and Rehabilitation, Serbia , Cirovic, Dragana University of Belgrade - Faculty of Medicine, Serbia , Krstic, Vera University of Belgrade - Faculty of Medicine, Serbia , Ducic, Sinisa University of Belgrade - Faculty of Medicine, Serbia , Konstantinovic, Ljubica University of Belgrade - Faculty of Medicine, Serbia , Foti, Calogero Tor Vergata University - Physical and Rehabilitation Medicine, Italy
Abstract :
Background: Angelman syndrome (AS) is a genetic disorder with varying degrees of neurological impairment. It is often associated with ocular involvement. Case Report: We present a child diagnosed with AS who had a deletion on the short arm of chromosome 15. The child seemed to be happy, with developmental delay, speech problem, and altering strabismus. To assess the potential presence and degree of damage in the visual pathway, we recorded monocular flash visual evoked potentials (VEPs). Our results revealed the presence of severe central afferent dysfunction in both optical pathways. Conclusion: VEPs can be used in patients with AS and visual disturbances to assess the integrity of the visual system.
