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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.
Case report
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 …