Caen S, Cassiman C, Legius E, Casteels I
Department of Ophthalmology, University Hospitals Leuven, KU Leuven, Campus Sint Rafaël, Kapucijnenvoer 33, 3000 Leuven, Belgium.
Department of Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.
Eur J Paediatr Neurol. 2015 Jul;19(4):415-22. doi: 10.1016/j.ejpn.2015.03.002. Epub 2015 Mar 10.
Efforts are made to unify the protocol concerning the ophthalmological screening, monitoring and treatment of Optic Pathway Gliomas (OPGs) in children with neurofibromatosis type 1 (NF1). The aim of this study is to compare the most recent recommendations published in 2007 with the screening strategies in NF1 centres. The integration of these data resulted into a recommendation for an improved screening strategy.
A literature search on PubMed between 1984 and 2013 was performed. A questionnaire on the ophthalmological screening in NF1 was sent to centres of expertise in the field of NF1. Literature and questionnaire data were analysed. Also, findings of a round table discussion on the ophthalmological screening of NF1 patients at the European Paediatric Ophthalmological Society (EPOS) meeting in 2013 were summarized.
In most centres ophthalmological screening in NF1 patients is well organized, but is performed longer and at more regular intervals than is mentioned in the recommendations. Visual acuity testing, fundoscopy and pupillary reflexes are carried out unanimously.
There is no uniformity of the ophthalmological screening in NF1 patients. The present recommendation advises to screen annually until the age of 8. Because OPGs are likely to develop before the age of 6 and children do not usually complain of visual problems, OPGs can be missed or detection can be delayed if screening is only yearly performed at this young age. Based on these arguments, about half of our responders screen more frequently and until a later age. Therefore, we suggest performing a six monthly screening until the age of 6 and a yearly examination from 6 years until adulthood. This examination should include visual acuity assessment, pupillary reflexes and a fundoscopy.
致力于统一1型神经纤维瘤病（NF1）患儿视路胶质瘤（OPG）的眼科筛查、监测及治疗方案。本研究旨在比较2007年发布的最新建议与NF1中心的筛查策略。整合这些数据后得出了改进筛查策略的建议。
对1984年至2013年期间的PubMed进行文献检索。向NF1领域的专业中心发送了一份关于NF1眼科筛查的问卷。对文献和问卷数据进行了分析。此外，还总结了2013年欧洲小儿眼科学会（EPOS）会议上关于NF1患者眼科筛查的圆桌讨论结果。
在大多数中心，NF1患者的眼科筛查组织良好，但筛查时间比建议中提到的更长，且间隔更规律。视力测试、眼底检查和瞳孔反射检查均一致进行。
NF1患者的眼科筛查缺乏一致性。目前的建议是在8岁前每年进行筛查。由于OPG可能在6岁前发病，而儿童通常不会诉说视力问题，因此如果在这个年幼时仅每年进行一次筛查，可能会漏诊OPG或延迟发现。基于这些理由,约一半的受访者进行更频繁的筛查，且持续到更大年龄。因此，我们建议在6岁前每半年进行一次筛查，6岁至成年每年进行一次检查。这项检查应包括视力评估、瞳孔反射和眼底检查。
