Screening studies have shown detection of optic pathway gliomas (OPGs) in 8 to 31% of children with neurofibromatosis type 1 (NF1). Many of those affected show prolonged indolent phases, but others develop vision disturbances even before diagnosis and treatment. We assessed the clinical presentation at diagnosis, location, natural progression, and risk factors for impaired vision of OPG. The clinical database of the NF1 multidisciplinary clinic of Schneider Children's Medical Center of Israel was reviewed for all patients diagnosed and followed with NF1 during 2007 to 2019. OPG was diagnosed by hyperintensity and thickening along the optic pathway on T2-weighted brain magnetic resonance imaging (MRI), with or without contrast enhancement. Of 257 children with NF1 who underwent MRI, 57 (22%) were diagnosed with OPG; 31 (54%) were females. Twenty-five (44%) had familial NF1. Fifteen (26%) who exhibited tumor progression and worsening in ophthalmic examinations required treatment. Post-chiasmatic glioma was a predictive factor for treatment (p < 0.05), whereas MRI done later and female gender were not significant. Four patients who eventually needed therapy had normal ophthalmic examinations at least 1 year prior to their first MRI. For 6 (40%) of the patients treated, vision continued to worsen. Our findings demonstrate that normal ophthalmic examinations do not always exclude OPG in children with NF1. Early brain MRI before age 36 months may detect OPG, lead to better follow-up and early treatment, and help improve vision outcome.

筛查研究表明，在 8% 至 31% 的 1 型神经纤维瘤病 (NF1) 患儿中检测到视神经胶质瘤 (OPG)。许多受影响的人表现出长时间的惰性阶段，但其他人甚至在诊断和治疗之前就出现视力障碍。我们评估了 OPG 视力受损的诊断、位置、自然进展和风险因素的临床表现。以色列施耐德儿童医疗中心 NF1 多学科诊所的临床数据库对 2007 年至 2019 年期间诊断和随访 NF1 的所有患者进行了审查。OPG 诊断为 T2 加权脑磁共振成像视神经通路高信号和增厚。 MRI），有或没有对比增强。在接受 MRI 检查的 257 名 NF1 儿童中，57 名 (22%) 被诊断为 OPG；31 人（54%）是女性。25 人 (44%) 患有家族性 NF1。在眼科检查中表现出肿瘤进展和恶化的 15 名 (26%) 需要治疗。交叉后神经胶质瘤是治疗的预测因素（p  < 0.05），而后来进行的 MRI 和女性性别不显着。最终需要治疗的四名患者在首次 MRI 前至少 1 年进行了正常的眼科检查。对于接受治疗的 6 名 (40%) 患者，视力继续恶化。我们的研究结果表明，正常的眼科检查并不总是排除 NF1 儿童的 OPG。36 个月之前的早期脑部 MRI 可以检测 OPG，导致更好的随访和早期治疗，并有助于改善视力结果。