| Literature DB >> 25207107 |
Tatjana Knezevic1, Ivana Petronic2, Dejan Nikolic1, Dragana Cirovic2, Vera Krstic2, Sinisa Ducic2, Ljubica Konstantinovic2, Calogero Foti3.
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.Entities:
Keywords: angelman syndrome; children; visual evoked potentials
Year: 2013 PMID: 25207107 PMCID: PMC4115968 DOI: 10.5152/balkanmedj.2013.8280
Source DB: PubMed Journal: Balkan Med J ISSN: 2146-3123 Impact factor: 2.021