Retina. 2021 Jun 7. doi: 10.1097/IAE.0000000000003234. Online ahead of print.
ABSTRACT
PURPOSE: Retinal vascular abnormalities (RVA) 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 old) 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 [1.5 – 18] years, were included; 52 (37.1%) patients (81 eyes) exhibited RVAs. These RVAs comprised 96% (50/52) of simple vascular tortuosity and 17% (9/52) of cork-screw pattern. Cork-screw pattern involved only small veins, while 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 cork-screw 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 localised tortuosity in both small arteries and veins, while only small second or tertiary order venules evolve to highly tortuous pattern.
PMID:34111884 | DOI:10.1097/IAE.0000000000003234
