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Choroidal Abnormalities in Neurofibromatosis Type 1
No full textEducational case presentation highlighting the ophthalmic manifestations of Neurofibromatosis Type 1 (NF1). The case illustrates key diagnostic criteria including Lisch nodules and choroidal abnormalities with the latter now recognized as a formal diagnostic criterion due to prevalence in pediatric patients over other manifestations like Lisch nodules. Choroidal abnormalities are now more easily detected via near-infrared optical coherence tomography. Comprehensive clinical findings, multimodal imaging (including slit-lamp and Fundus), and the revised NF1 diagnostic criteria are discussed. The presentation also reviews the pathophysiology and clinical relevance of optic pathway gliomas, eyelid and orbital plexiform neurofibromas, and their potential association with glaucoma. This submission is designed to educate ophthalmologists, neurologists, and trainees on the ocular manifestations of NF1 with emphasis on early detection, diagnostic imaging, and the role of ocular findings in a systemic diagnosisAlkatan, H. M., Bakry, S. S., & Alabduljabbar, M. A. (2019). Ocular findings in neurofibromatosis. In IntechOpen eBooks. https://doi.org/10.5772/intechopen.90021. Cimino, P. J., & Gutmann, D. H. (2018). Neurofibromatosis type 1. Handbook of Clinical Neurology, 799-811. https://doi.org/10.1016/b978-0-444-64076-5.00051-x. Kinori, M., Hodgson, N., & Zeid, J. L. (2017b). Ophthalmic manifestations in neurofibromatosis type 1. Survey of Ophthalmology, 63(4), 518-533. https://doi.org/10.1016/j.survophthal.2017.10.007. Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R. A., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K. S., Ferner, R., Fisher, M. J., Friedman, J. M., Gutmann, D. H., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V., Peltonen, S., Rauen, K. A., Riccardi, V., . . . Plotkin, S. R. (2021). Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine, 23(8), 1506-1513. https://doi.org/10.1038/s41436-021-01170-5.Ragge, N. K., Falk, R. E., Cohen, W. E., & Murphree, A. L. (1993). Images of Lisch nodules across the spectrum. Eye, 7(1), 95-101. https://doi.org/10.1038/eye.1993.20. Stemmer-Rachamimov, A. O., Kozanno, L., Plotkin, S. R., Jordan, J. T., & Rizzo, J. F. 3. (2024). Histologic correlates of "Choroidal abnormalities" in Neurofibromatosis type 1 (NF1). Acta Neuropathologica, 147(1). https://doi.org/10.1007/s00401-024-02724-y. Vagge, A., Camicione, P., Capris, C., Sburlati, C., Panarello, S., Calevo, M. G., Traverso, C. E., & Capris, P. (2015). Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population. Acta Ophthalmologica, 93(8). https://doi.org/10.1111/aos.1275
