Choroidal hyperreflective nodules detected by infrared reflectance images as a new diagnostic criterion for Neurofibromatosis ‐1

Abstract

AbstractPurposeTo investigate the possibility of including the presence of choroidal abnormalities detected by infrared reflectance as a new diagnostic criterion for neurofibromatosis type 1 (NF1).MethodsA cross‐sectional study was carried out in 24 eyes of 12 patients diagnosed with NF1 using the criteria of the National Institutes of Health (NIH). A group of 12 healthy individuals of equivalent age and sex served as control. The presence and number of visualized choroidal abnormalities were evaluated by Heidelberg optical coherence tomography (OCT) with infrared reflectance (NIR) as well as the presence of iridian Lisch nodules by slit lamp examination.ResultsNIR by OCT shows the presence of choroidal hyperreflective nodules in all the patients diagnosed with NF1, while these choroidal abnormalities are not observed in any control. This finding is more frequent than the presence of iridian Lisch nodules.ConclusionsHyperreflective nodules detected by NIR appear more frequently than Lisch nodules in NF1. The study suggests that it could be considered as a new diagnostic criterion for NF1.