Department of Ophthalmology, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
Department of Neurosurgery, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
BMC Ophthalmol. 2020 Oct 23;20(1):426. doi: 10.1186/s12886-020-01670-z.
Neurofibromatosis type 1 (NF1) is a hereditary disease that causes neurofibromas generally, but it has been reported to sometimes be associated with various forms of blood vessel stenosis, occlusion and vascular abnormalities of unknown mechanism. However, a symptomatic case with simultaneous ophthalmic artery stenosis and internal carotid artery stenosis is an extremely rare pathogenesis in a child with NF1. In this report, we performed the diagnosis and observation using various imaging modalities for this rare pediatric case.
A 6-year-old girl diagnosed with NF1 presented with gradual visual loss in the right eye. Best corrected visual acuity (BCVA) was 20/40 OD and the intraocular pressure (IOP) was normal in both eyes. Retinal vascular abnormalities with tortuous vessels and optic disc pallor were observed in the right fundus. Widefield fluorescein angiography revealed multiple sites of neovascularization and a large non-perfusion area in the peripheral retina. Optical coherence tomography angiography showed retinal vascular abnormalities in the right eye and revealed differences in inner retinal thickness and blood flow signal between the left and right eyes. Laser speckle flowgraphy showed that chorioretinal blood flow was significantly decreased in the right eye. Cerebral angiography revealed the right ophthalmic artery was significantly narrowed throughout. In addition, Magnetic resonance angiography revealed that the right internal carotid artery was significantly narrowed in the ophthalmic segment. We diagnosed ophthalmic artery and internal carotid artery stenosis with retinal vascular abnormalities and ocular ischemic syndrome in NF1. Because IOP increased to 35 mmHg, due to neovascular glaucoma in addition to mild vitreous hemorrhage occurred, panretinal photocoagulation was performed after intravitreal bevacizumab injection. After treatments, IOP normalized, but BCVA decreased to 20/100 OD. Arterial spin labeling showed normal cerebral blood flow. The patient is currently being carefully monitored.
We have described the diagnosis and treatment of ocular ischemic syndrome due to multiple arteries stenosis in a child with NF 1. Utilization of various imaging modalities was helpful in diagnosing the complicated pathogenesis. However, since direct intervention by neurosurgery is not possible in this case, it is expected that treatment will be extremely difficult in the future.
神经纤维瘤病 1 型（NF1）是一种遗传性疾病，通常会导致神经纤维瘤，但据报道，它有时与各种形式的血管狭窄、闭塞和机制不明的血管异常有关。然而，在 NF1 患儿中，同时出现眼动脉狭窄和颈内动脉狭窄的症状性病例是一种极其罕见的发病机制。在本报告中，我们使用各种成像方式对这例罕见的儿科病例进行了诊断和观察。
一名 6 岁女孩被诊断为 NF1，出现右眼渐进性视力丧失。右眼最佳矫正视力（BCVA）为 20/40，双眼眼压正常。右眼眼底可见视网膜血管异常，表现为血管迂曲和视盘苍白。广角荧光素血管造影显示周边视网膜多处新生血管形成和大片非灌注区。光学相干断层扫描血管造影显示右眼视网膜血管异常，并显示左眼和右眼内视网膜厚度和血流信号存在差异。激光散斑血流仪显示右眼脉络膜血流明显减少。脑血管造影显示右眼眼动脉全程明显狭窄。此外，磁共振血管造影显示右眼颈内动脉眼段明显狭窄。我们诊断 NF1 患者存在视网膜血管异常和眼缺血综合征导致的眼动脉和颈内动脉狭窄。由于眼压升高至 35mmHg，除轻度玻璃体出血外，还出现新生血管性青光眼，因此在玻璃体内注射贝伐单抗后行全视网膜光凝。治疗后，眼压正常，但右眼 BCVA 降至 20/100。动脉自旋标记显示脑血流正常。目前正在对患者进行密切监测。
我们描述了 NF1 患儿因多支动脉狭窄导致的眼缺血综合征的诊断和治疗。各种成像方式的应用有助于诊断复杂的发病机制。然而，由于本例无法进行神经外科直接干预，预计未来治疗将极其困难。
