DOI: 10.12890/2026_006071
Unilateral Yasunari nodule-like appearance in a patient without neurofibromatosis type 1
Authors
hamitaliMD@protonmail.com
Keywords
Choroid, infrared image, neurofibromatosis type 1, NF1, Yasunari nodulesAbstract
Introduction: Yasunari nodules are choroidal lesions characterized by bright, poorly demarcated multiple lesions detected through near-infrared reflectance imaging and are considered diagnostic for neurofibromatosis type 1 (NF1). We report a case of unilateral Yasunari-like nodules in a patient without clinical or genetic evidence of NF1.
Case description: A 53-year-old male presented with a 7-day history of floaters in both eyes. Best-corrected visual acuity was 20/20 in the right eye and 20/25 in the left eye. Slit-lamp examination revealed bilateral multiple iris nevi. Both fundi appeared normal on colour photography. The right infrared image demonstrated multiple bright, relatively well-defined areas suggesting Yasunari nodules, whereas the left infrared image was normal. Green and blue autofluorescent images were unremarkable bilaterally. Spectral domain optical coherence tomography revealed poorly demarcated hyperreflective choroidal nodule-like changes in the right eye only. Physical examination revealed no signs of NF1. Next-generation deoxyribonucleic acid sequencing of blood and skin specimens was negative for NF1.
Discussion: This is the second reported case of unilateral Yasunari-like nodules in a patient without NF1. Despite extensive clinical and genetic evaluation, including testing for somatic mosaicism, all results were negative for NF1. The lesions were considered benign incidental findings and monitored conservatively.
Conclusion: Although infrequent, lesions resembling Yasunari nodules may be observed in patients without NF1. Clinicians should be aware of this possibility when encountering similar imaging findings.
References
- de Rivas MO, Gabás JM, Cabeza MÁT, Floría OE, Latorre RH, Moscarda EN, et al. Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia. Diagnostics (Basel) 2023;13:1348. doi: 10.3390/diagnostics13071348
- Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med 2021;23:1506-1513. doi: 10.1038/s41436-021-01170-5
- Abdolrahimzadeh S, Felli L, Plateroti R, Plateroti AM, Giustini S, Calvieri S, et al. Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1. Br J Ophthalmol 2015;99:789-793. doi: 10.1136/bjophthalmol-2014-306062
- Ahmadova N, Kayabasi M, Köksaldi S, Hümaz E, Saatci AO. Multimodal Imaging Characteristics and Diagnostic Value of Choroidal Nodules in Patients with Neurofibromatosis Type 1. Turk J Ophthalmol 2024;54:140-148. doi: 10.4274/tjo.galenos.2024.48017
- Woog JJ, Albert DM, Craft J, Silberman N, Horns D. Choroidal ganglioneuroma in neurofibromatosis. Graefes Arch Clin Exp Ophthalmol 1983;220:25-31. doi: 10.1007/BF02307012
- de Sousa LICG, Moreira GV, Meirelles MGB, Guerra RLL. Enhancing neurofibromatosis type 1 diagnosis: The role of near-infrared reflectance imaging in identifying Yasunari nodules and vascular changes. Indian Journal of Ophthalmology - Case Reports 2025;5:374-376. doi: 10.4103/IJO.IJO_2666_24
- Abdolrahimzadeh S, Formisano M, Guglielmelli F, Amodeo S, Costa MC, Scuderi G. Unusual Case of Indolent Choroidal Alterations Mimicking Neurofibromatosis Type 1. Case Rep Ophthalmol 2020;11:167-173. doi: 10.1159/000507428
