Retinal Vascular Occlusive Disease in a Child With Neurofibromatosis

Systemic vascular ischemic manifestations of neurofibromatosis (NF) have been described in the aortic, cerebral, and renal vasculature.¹ The occlusive manifestations include stenosis of small vessels, progressive capillary ischemia, and compensatory collateral circulation. Presented herein is a report of a case of a child with NF and unilateral, diffuse, retinal, vascular ischemia.

Report of a Case.  A 4-year-old Hispanic boy with a history of NF type I presented with an exodeviation and amblyopia involving the right eye. The best-corrected visual acuity was 20/40 OD and 20/20 OS.Diagnosis of NF type I was made on the basis of multiple café au lait spots, plexiform neurofibroma, and a paternal history of NF. There was no history of prematurity, low birth weight, or familial history of vitreoretinal disorders.Funduscopic examination of the right eye revealed a slightly pale, oval optic disc (Figure 1). The fovea was slightly ectopic superiorly and temporally. Diffuse