The role of visual electrodiagnostics in management of children with neurofibromatosis type 1.

Autor: Tekavčič Pompe M; University Eye Clinic Ljubljana, University Medical Centre Ljubljana, Grablovičeva 46, 1000, Ljubljana, Slovenia. manca.tekavcic-pompe@guest.arnes.si.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. manca.tekavcic-pompe@guest.arnes.si., Pečarič Meglič N; Clinical Institute of Radiology, University Medical Centre Ljubljana, Ljubljana, Slovenia., Šuštar Habjan M; University Eye Clinic Ljubljana, University Medical Centre Ljubljana, Grablovičeva 46, 1000, Ljubljana, Slovenia.
Jazyk: angličtina
Zdroj: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2023 Apr; Vol. 146 (2), pp. 121-136. Date of Electronic Publication: 2023 Jan 18.
DOI: 10.1007/s10633-023-09920-3
Abstrakt: Purpose: To evaluate the role of visual electrodiagnostic testing in children with neurofibromatosis type 1 (NF1) despite improved accessibility to magnetic resonance imaging (MRI).
Methods: The records from 39 children (78 eyes, 15 boys, 24 girls, average age at last visit of 11.5 ± 4.3 years, average follow-up time of 7.8 ± 3.9 years) with genetically confirmed NF1 were retrospectively analysed. They all underwent a thorough ophthalmological investigation, including age-appropriate visual acuity testing, anterior segment evaluation for Lisch nodules and a dilated fundus examination. If children were cooperative enough, colour vision was tested using the Hardy-Rand-Rittler test, visual fields were evaluated with Goldmann perimetry. All performed MRI of the brain and orbits as part of the standard of care protocol. Visual electrodiagnostics included electroretinography (ERG) and visual evoked potentials (VEP) using a standard protocol in older children, whereas with less cooperative children a modified protocol according to the Great Ormond Street Hospital (GOSH protocol) was used.
Results: The average visual acuity was 0.8 ± 0.3, colour vision was abnormal in 6%, perimetry in 8%, Lisch nodules were present in 62%, and the optic disc was pale in 66% of all eyes. Plexiform neurofibroma of the eyelid/orbit was present in 4%. Optic pathway glioma (OPG) was detected with MRI in 22 (57%) and in 6/22 treatment was indicated. Other intracranial NF1-related lesions were documented in 70% of children. VEP were abnormal in 16/39 of all children with NF1 (41%) comprising 14/22 (65%) of children with confirmed OPG and 2/17 (12%) of children without OPG. All full-field and pattern ERG responses were within normal limits. All individual VEP results are described and three cases from this cohort of children are presented in detail to illustrate the importance of VEP testing. In Case 1, VEP abnormality suggested subsequent MRI of the brain under general anaesthesia, which was otherwise contraindicated according to normal clinical findings and his young age. In Cases 2 and 3, VEP provided more precise functional information during the follow-up of OPG, while other psychophysical tests remained unchanged.
Conclusions: Electrodiagnostics has multifactorial role and importance in children with NF1, either when visual pathway function is impaired in young children, even before MRI under general anaesthesia and other psychophysical tests can be performed, as well as for a more precise monitoring of the visual pathway function before potential treatment of OPG, or after it, to evaluate its success.
(© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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