Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia

Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia

Neurofibromatosis 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 choroida...

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Published in:Diagnostics (Basel) Vol. 13; no. 7; p. 1348
Main Authors: de Rivas, Marta Orejudo, Gabás, Javier Mateo, Cabeza, Miguel Ángel Torralba, Floría, Olivia Esteban, Latorre, Raquel Herrero, Moscarda, Eva Núñez, Clavería, Julia Aramburu, Rivasés, Guillermo Pérez, Puyuelo, Javier Ascaso
Format: Journal Article
Language:English
Published: Switzerland MDPI AG 01-04-2023
MDPI
Subjects:
Chi-square test
Choroid
choroidal nodules
Communication
Diagnosis
Diagnostic imaging
Genetic disorders
Health aspects
Lisch nodules
Methods
Myopia
Neurofibromatosis
neurofibromatosis type 1
Neurological disorders
Ophthalmology
Patients
Topography
Tumors
White people
Spain
Lisch nodules
neurofibromatosis type 1
choroidal nodules
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Summary:Neurofibromatosis 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.
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ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics13071348