Diagnosis and clinical course of ocular ischemic syndrome with retinal vascular abnormalities due to unilateral...

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.