000125825 001__ 125825 000125825 005__ 20241125101149.0 000125825 0247_ $$2doi$$a10.3390/diagnostics13071348 000125825 0248_ $$2sideral$$a133357 000125825 037__ $$aART-2023-133357 000125825 041__ $$aeng 000125825 100__ $$aOrejudo de Rivas, Marta 000125825 245__ $$aChoroidal Hyperreflective Nodules detected by infrared reflectance images are a diagnostic criterion for Neurofibromatosis Type 1 patients excluding those with high myopia 000125825 260__ $$c2023 000125825 5060_ $$aAccess copy available to the general public$$fUnrestricted 000125825 5203_ $$aNeurofibromatosis type 1 (NF1) is one of the central nervous system’s most common autosomal dominant conditions. The diagnosis is based on the clinical diagnostic criteria and/or a molecularly confirmed mutation in the NF1 gene. This study investigated the possibility of substantiating choroidal nodules as a diagnostic criterion for the disease, including patients affected with and without high myopia. A cross-sectional study was carried out in 60 eyes of 30 adult patients diagnosed with NF1. A total of 30 healthy individuals of equivalent age and sex served as control. The Spectralis HRA+OCT MultiColor (Heidelberg Engineering GmbH, Heidelberg, Germany) evaluated the presence of choroidal abnormalities with near-infrared reflectance imaging. Secondly, the presence of iridian Lisch nodules was evaluated by slit lamp examination. Near-infrared reflectance imaging showed the presence of choroidal hyperreflective nodules in 83% of the patients diagnosed with NF1, while these choroidal abnormalities were not observed in any control subject. The patients diagnosed with NF1 associated with high myopia were the only ones who did not present the characteristic choroidal disorders. Therefore, when excluding patients diagnosed with high myopia, choroidal nodules were more frequent than Lisch nodules in a statistically significant proportion. Hyperreflective nodules detected by near-infrared reflectance imaging are as regular as Lisch nodules or even significantly more frequent when excluding high myope patients. Our observation of the mutual exclusion of choroidal hyperreflective nodules and high myopia in the NF1 patients seems a novel and interesting remark. 000125825 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/ 000125825 590__ $$a3.0$$b2023 000125825 592__ $$a0.667$$b2023 000125825 591__ $$aMEDICINE, GENERAL & INTERNAL$$b59 / 329 = 0.179$$c2023$$dQ1$$eT1 000125825 593__ $$aClinical Biochemistry$$c2023$$dQ2 000125825 594__ $$a4.7$$b2023 000125825 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000125825 700__ $$aGabás, Javier Mateo 000125825 700__ $$0(orcid)0000-0001-9760-1248$$aTorralba Cabeza, Miguel Ángel$$uUniversidad de Zaragoza 000125825 700__ $$aFloría, Esteban Olivia 000125825 700__ $$aHerrero Latorre, Raquel$$uUniversidad de Zaragoza 000125825 700__ $$aNúñez Moscarda, Eva 000125825 700__ $$aAramburu Clavería, Julia 000125825 700__ $$aPérez Rivasés, Guillermo 000125825 700__ $$0(orcid)0000-0001-9876-5850$$aAscaso Puyuelo, Javier$$uUniversidad de Zaragoza 000125825 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina 000125825 7102_ $$11013$$2646$$aUniversidad de Zaragoza$$bDpto. Cirugía$$cÁrea Oftalmología 000125825 773__ $$g13, 7 (2023), 1348 [6 pp.]$$tDiagnostics$$x2075-4418 000125825 8564_ $$s935370$$uhttps://zaguan.unizar.es/record/125825/files/texto_completo.pdf$$yVersión publicada 000125825 8564_ $$s2764803$$uhttps://zaguan.unizar.es/record/125825/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000125825 909CO $$ooai:zaguan.unizar.es:125825$$particulos$$pdriver 000125825 951__ $$a2024-11-22-12:06:03 000125825 980__ $$aARTICLE