Near-infrared imaging of the choroid in the evaluation of neurofibromatosis

Near Infrared (NIR) imaging of the fundus with Spectral Domain Optical Coherence Tomography (OCT) with Enhanced Depth Imaging (EDI) is a useful tool to detect choroidal abnormalities in patients with Neurofibromatosis type 1 (NF1). Choroidal neurofibromas were considered rare as it was undetectable by conventional Ophthalmoscopy. NIR imaging utilizes long wavelength Infrared light with good transmission through retinal pigment epithelium providing superior visibility of choroid. We describe 2 female patients aged 20 and 15 years respectively who presented with atypical features of NF1 like unilateral Lisch nodules (first case) and bilateral early Lisch nodules (second case). Fundus examination was normal in both patients. NIR imaging revealed Choroidal neurofibromas as bright patchy lesions with corresponding irregular hyper reflectance on OCT with EDI in both cases, confirming the diagnosis of NF1. This simple, fast and non invasive imaging modality may be recommended in the routine evaluation of patients with NF1.