Unusual case of enlarged choroidal vessels in neurofibromatosis type 1 observed with near-infrared reflectance and spectral domain optical coherence tomography.

Abstract

The cardinal diagnostic signs of neurofibromatosis type 1 (NF1) are Lisch nodules of the iris and optic pathway gliomas. Retinal mi-crovascular alterations have been described but with uncertain signi-ficance. Choroidal nodules, detectable with near-infrared reflectance (NIR) imaging, are present in most cases and have been proposed as a new diagnostic criterion. Recently, a study reported the presence of unusual dilated choroidal vessels, visible through NIR examination. We report a case of a 65-year-old patient with NF1. Best-corrected visual acuity was 20/20 with a refractive error of +2.75 diopters in both eyes. Anterior segment examination revealed Lisch nodules in both eyes. At NIR imaging the patient presented typical choroidal alterations in both eyes. No retinal vessel anomalies were detected. The patient presented enlarged choroidal vessels in the left eye, first detected by NIR and then analyzed through enhanced depth imaging spectral domain optical coherence tomography (EDI-SDOCT). These vessels extended from the choroidal-scleral junction to the outer border of the retinal pigment epithelium/Bruch's layer. The choriocapillaris layer was absent above the dilated vessels. The presence of enlarged choroidal vessels may be considered as a novel distinctive ophthalmologic aspect of NF1, but further studies are necessary.