Clinical Efficacy of Near-Infrared Reflectance Imaging and Optical Coherence Tomography in Identifying Ocular Manifestations of Neurofibromatosis Type 1 in Korean Children

Purpose The aim of this study was to investigate the clinical efficacy of near-infrared reflectance (NIR) imaging and optical coherence tomography (OCT) in identifying ocular manifestations of neurofibromatosis type 1 (NF1) in Korean children. Methods This retrospective chart review study included five Korean children with NF1 aged under 18 years who had undergone ophthalmic procedures, including slit-lamp examinations, NIR imaging, and OCT scanning. Results Multiple patchy bright lesions were observed on NIR imaging in all eyes (10 eyes in five patients). Further NIR imaging and OCT scans showed that these lesions, confined to the choroid, were choroidal nodules. Lisch nodules, contrastingly, were found in only four of 10 eyes by slit-lamp examinations on the same day as the NIR imaging. One of those four eyes had only one Lisch nodule, which did not meet the NF1 diagnostic criteria. Conclusion NIR imaging enabled the detection of choroidal nodules in Korean children with NF1. Moreover, for Korean children with NF1, choroidal nodules were earlier-detected ocular manifestations relative to Lisch nodules. NIR imaging, along with OCT, is a useful protocol for localizing NF1 nodules in children.