Tekavčič Pompe Manca, Pečarič Meglič Nuška, Šuštar Habjan Maja
University Eye Clinic Ljubljana, University Medical Centre Ljubljana, Grablovičeva 46, 1000, Ljubljana, Slovenia.
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Doc Ophthalmol. 2023 Apr;146(2):121-136. doi: 10.1007/s10633-023-09920-3. Epub 2023 Jan 18.
To evaluate the role of visual electrodiagnostic testing in children with neurofibromatosis type 1 (NF1) despite improved accessibility to magnetic resonance imaging (MRI).
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.
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.
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.
尽管磁共振成像（MRI）的可及性有所提高，但仍要评估视觉电诊断测试在1型神经纤维瘤病（NF1）儿童中的作用。
对39例经基因确诊为NF1的儿童（78只眼，15名男孩，24名女孩，末次就诊时平均年龄为11.5±4.3岁，平均随访时间为7.8±3.9年）的记录进行回顾性分析。他们均接受了全面的眼科检查，包括适合年龄的视力测试、针对Lisch结节的眼前节评估以及散瞳眼底检查。如果儿童配合度足够，则使用Hardy-Rand-Rittler测试进行色觉测试，用Goldmann视野计评估视野。所有患儿均按照标准护理方案进行了脑部和眼眶的MRI检查。视觉电诊断包括对年龄较大儿童使用标准方案进行视网膜电图（ERG）和视觉诱发电位（VEP）检查，而对于配合度较低的儿童，则使用根据大奥蒙德街医院（GOSH方案）修改的方案。
平均视力为0.8±0.3，6%的患儿色觉异常，8%的患儿视野异常，62%的眼睛存在Lisch结节，66%的眼睛视盘苍白。4%的患儿存在眼睑/眼眶的丛状神经纤维瘤。MRI检测出22例（57%）患有视路胶质瘤（OPG），其中6/22例需要进行治疗。70%的儿童记录有其他颅内NF1相关病变。在所有NF1患儿中，16/39例（41%）VEP异常，其中确诊OPG的患儿中有14/22例（65%），未患OPG的患儿中有2/17例（12%）。所有全视野和图形ERG反应均在正常范围内。描述了所有个体的VEP结果，并详细介绍了该队列中的3例患儿，以说明VEP测试的重要性。在病例1中，VEP异常提示随后在全身麻醉下进行脑部MRI检查，否则根据正常临床检查结果及患儿年龄，该项检查是禁忌的。在病例2和病例3中，VEP在OPG随访期间提供了更精确的功能信息，而其他心理物理学测试结果保持不变。
电诊断在NF1儿童中具有多方面的作用和重要性，无论是在幼儿视觉通路功能受损时，甚至在可以进行全身麻醉下的MRI检查和其他心理物理学测试之前，还是在OPG可能接受治疗之前或之后，用于更精确地监测视觉通路功能以评估治疗效果。
