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Systemic occlusive arteriopathy associated with type 1 neurofibromatosis (NF-1) has been well described in the aortic and cerebral vasculature1; however, it is poorly documented in the retinal vasculature with, to our knowledge, only three reported patients whose retinal vasculopathy was diagnosed at a later sequelae stage.2–4 We report the case of a young woman with NF-1 who presented with acute macular ischaemia combined with diffuse retinal arterial occlusive disease.
A 26 year old woman with NF-1 presented with a sudden painless loss of vision in her left eye. Visual acuity was counting fingers left eye and 20/20 right eye. NF-1 had previously been diagnosed on the basis of multiple café au lait spots, plexiform neurofibromas, and a paternal history of NF-1. Left fundus examination revealed confluent cottonwool spots in the perifoveal area, focal dilatations and narrowings of retinal venules, and progressive enlargement of retinal arterioles towards the periphery. The right fundus showed only peripapillary myelinated nerve fibres (fig 1).
Fluorescein angiography (FA) of the left eye showed no delayed perfusion in the choriocapillaris or central retinal artery, but a delayed retinal arteriovenous filling time. It revealed occlusion of macular arterioles, retinal arteriovenous communications in the mid-periphery, and a relatively well perfused retinal periphery (fig 2).
Cerebral and cervical magnetic resonance imaging and colour Doppler ultrasonography showed no vascular flow abnormalities. Internal medical examination and laboratory results excluded other diseases associated with retinal microvasculopathies.
One month after the initial examination, all the cottonwool spots disappeared, and sheathing appeared in a few veins. FA showed worsening of the retinal arteriolar occlusions in the mid-periphery (fig 2). A panretinal photocoagulation was subsequently performed. At 2 year follow up, left visual acuity remained unchanged, and the patient did not exhibit any preretinal fibrovascular proliferation.
To our knowledge, only three cases of retinal vascular occlusion in patients with NF-1 have been previously reported. All cases were diagnosed at a later sequelae stage. Moadel et al2 and Kadoi et al,3 respectively, reported the cases of a child who presented with an unilateral amblyopia, and a young woman with a history of unilateral poor vision. They both presented with diffuse sheathing of retinal vessels, retinal arteriovenous communications, and avascular peripheral retina with fibroglial proliferation. Thölen et al4 described a young man whose routine eye examination showed narrowing of a superotemporal retinal arteriole with irregular diameter of the corresponding vein, fibroglial proliferation, and arteriovenous communications. These authors suggested the possibility of either a primary occlusion of a retinal arterial or venous branch or alterations of vessel development. In contrast with other reported cases, our patient presented with acute unilateral occlusion of macular arterioles, combined with diffuse retinal arterial occlusive disease, in adulthood. Panretinal photocoagulation may have prevented fibroglial proliferation which was described in previous reported cases. Recent reports suggest that pathogenesis of NF-1 vasculopathy may result from dysfunction of neurofibromin, the NF-1 gene product, in vessel endothelial and smooth muscle cells.5
Our case shows that NF-1 related occlusive retinal arteriopathy may suddenly appear during adulthood and should be considered in patients with NF-1 or in young adults with retinal vascular occlusive disease and unknown NF-1.