Dragana Vucinic
University of Belgrade, Serbia
Posters & Accepted Abstracts: Neurochem Neuropharm
Purpose: Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorder with a great variability of clinical expression. Children with NF1 have an increased risk of developing Optic Pathway Gliomas (OPGs) during childhood. The role of Visual Evoked Potential (VEP) in the management of children with NF1, with and without OPGs, are controversial. The purpose of this investigation was to determine: (1) if VEP abnormalities could be identified in children with NF1 with no MRI evidence of OPGs; and (2) can screening for OPG in patient with NF1 be performed with VEP testing? Methods: We retrospectively reviewed VEP records of the 29 patients with NF1 who have had both, MRI and VEP. Pattern Reversal Visual Evoked Potentials (PR-VEP) were performed using standardized technique, on Medelec Sapphire Premiere device. Results: 29 children and adolescents were examined. Of those, 18 had pathological VEP: eight with the P100 latency prolongation, six with decreased amplitude, four with significant interocular amplitude difference. One of four patients with OPG has normal VEP. Conclusion: Our study showed that some degree of abnormalities could be identified in a significant number of patients, independently of presence of OPG. This may represent a marker of abnormal visual processing. Despite their limitations, VEPs would have provide useful adjunct to clinical ophthalmologic review to identified children at risk for visual impairment.
