Department of Medical Genetics, BC Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, Canada.
Department of Neurology, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
Orphanet J Rare Dis. 2018 Apr 23;13(1):62. doi: 10.1186/s13023-018-0811-9.
Optic pathway gliomas (OPGs) are present in 20% of children with neurofibromatosis 1 (NF1) but are less frequently observed in adults. Our goal was to determine the natural history of OPGs in children and adults with NF1.
We analyzed the features of OPGs and other intracranial lesions on 1775 head MRI scans of 562 unselected adults and children with NF1 collected between 2003 and 2015. 52 (9.3%) of 562 patients in this study had an OPG diagnosed on their MRI. The median age at first scan with an OPG present was 12.7 years. Of the 52 OPG patients, the intraorbital optic nerves were affected in 29 patients (56%), the prechiasmatic optic nerves were affected in 32 patients (62%), the optic chiasm was affected in 17 patients (33%) and the optic radiations were affected in 19 patients (37%). 29 patients had two or more areas affected. One patient had a newly-appearing OPG, and 1 patient showed progression. The rate of progression over 5 years was 2.4% (95% CI: 0.4% to 16%). Four patients showed partial regression of their OPGs, but we observed no case of complete regression during this study. The rate of regression over 5 years was 8.9% (95% confidence intervals: 2.8% to 26%). We found the presence of UBOs and the presence of OPGs in individual patients to be highly associated (p = 0.0061).
OPGs are more common in older adults with NF1 than previously thought. The occurrences of unidentified bright objects (UBOs) and asymptomatic OPGs are associated with each other. This suggests the possibility that OPGs that remain asymptomatic may differ pathogenically from those that become symptomatic.
神经纤维瘤病 1 型（NF1）患者中有 20%存在视神经胶质瘤（OPG），但在成人中较少见。我们的目标是确定 NF1 儿童和成人中 OPG 的自然病史。
我们分析了 2003 年至 2015 年间收集的 562 例未经选择的 NF1 儿童和成人的 1775 次头部 MRI 扫描中 OPG 和其他颅内病变的特征。在这项研究的 562 名患者中，有 52 名（9.3%）被 MRI 诊断为 OPG。首次出现 OPG 的中位年龄为 12.7 岁。在 52 名 OPG 患者中，29 名（56%）眶内视神经受影响，32 名（62%）视交叉前视神经受影响，17 名（33%）视交叉受影响，19 名（37%）视辐射受影响。29 名患者有两个或更多部位受影响。1 名患者出现新的 OPG，1 名患者出现进展。5 年内进展率为 2.4%（95%CI：0.4%至 16%）。4 名患者的 OPG 出现部分消退，但在本研究中未观察到完全消退的病例。5 年内消退率为 8.9%（95%置信区间：2.8%至 26%）。我们发现，个体患者中 UBO 的存在与 OPG 的存在高度相关（p=0.0061）。
NF1 成人中 OPG 比以前认为的更为常见。未识别的明亮物体（UBO）和无症状 OPG 的发生彼此相关。这表明，无症状的 OPG 在发病机制上可能与出现症状的 OPG 不同。
