Retinal vascular abnormalities in children with neurofibromatosis type 1

Purpose: Retinal vascular abnormalities (RVAs) have been recently described in patients with neurofibromatosis Type 1 (NF1) as vascular tortuosity, best visible on infrared imaging. This study assessed clinical RVA's characteristics in a large series of children with NF1. Methods: This retrospective observational study was conducted in children (0-18 years) with an NF1 diagnosis. Using near-infrared imaging, RVAs were classified according to the nature of vessels involvement and their degree of tortuosity. Results: Retinal imaging from 140 children, with a median age of 8.8 years (1.5-18), was included; 52 patients (37.1%) (81 eyes) exhibited RVAs. These RVAs comprised 96% (50/52) of simple vascular tortuosity and 17% (9/52) of a corkscrew pattern. A corkscrew pattern involved only small veins, whereas simple vascular tortuosity could affect both arteries and veins. No statistically significant age correlation was observed, but evolution of RVAs from simple vascular tortuosity to corkscrew pattern was observed in 5 cases. Conclusion: Retinal vascular abnormalities occurred in 37.1% of children with NF1. These abnormalities may result from NF1 promoting localized tortuosity in both small arteries and veins, whereas only small second-order or tertiary-order venules evolve to a highly tortuous pattern.