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Войти в исследования Balkan medical journal · 2013
Evaluation of visual evoked potentials in patient with angelmans syndrome - case report.
СтатьяНазвание и аннотация: Перевод в очереди
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Knezevic Tatjana, Petronic Ivana, Nikolic Dejan, Cirovic Dragana, Krstic Vera, Ducic Sinisa, Konstantinovic Ljubica, Foti Calogero
Аннотация
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.
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.