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Graefe's Archive for Clinical and Experimental Ophthalmology

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01-02-2018 | Retinal Disorders

Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1

Authors: Antonietta Moramarco, Sandra Giustini, Italo Nofroni, Fabiana Mallone, Emanuele Miraglia, Chiara Iacovino, Stefano Calvieri, Alessandro Lambiase

Published in: Graefe's Archive for Clinical and Experimental Ophthalmology | Issue 2/2018

Abstract

Purpose

Only a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of this study was to evaluate the prevalence of ocular abnormalities in a large population of NF1 patients, focusing on the choroidal changes.

Methods

This study was conducted on 160 consecutive patients with NF1 and 106 sex- and age-matched healthy subjects (control). Each patient underwent a complete ophthalmological examination inclusive of best-corrected visual acuity, intraocular pressure measurement, slit-lamp biomicroscopy, indirect fundus biomicroscopy, and near-infrared reflectance (NIR) retinography by using the spectral domain OCT. Moreover, all patients underwent complete dermatological exam and 1.5-Tesla MRI scan of the brain to assess the presence of optic nerve gliomas.

Results

Choroidal abnormalities were detected in 97% of patients, with a positive predictive value of 100% and a negative predictive value of 96.4%. Interestingly, a small number of patients (4/160; 2.5%) showed Lisch nodules without choroidal abnormalities, whereas a larger number of patents (22/160; 13.75%) presented choroidal lesions in absence of Lisch nodules. None of the patients showed the absence of both choroidal lesions and Lisch nodules. The number of choroidal lesions increased with age (r = 0.364, p = 0.0001) and with the severity of pathology (r = 0.23, p = 0.003). Any statistically significant correlation between choroidal lesions, visual acuity, and intraocular pressure was observed.

Conclusions

NIR imaging represents an in vivo, non-invasive, sensitive and reproducible exam to detect choroidal nodules in NF-1 patients, suggesting that choroidal changes may represent an additional diagnostic criteria for NF1.

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Title: Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1
Authors: Antonietta Moramarco
Sandra Giustini
Italo Nofroni
Fabiana Mallone
Emanuele Miraglia
Chiara Iacovino
Stefano Calvieri
Alessandro Lambiase
Publication date: 01-02-2018
Publisher: Springer Berlin Heidelberg
Published in: Graefe's Archive for Clinical and Experimental Ophthalmology / Issue 2/2018
Print ISSN: 0721-832X
Electronic ISSN: 1435-702X
DOI: https://doi.org/10.1007/s00417-017-3870-z

ACC 2024 Congress

Springer Medicine

Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1

Abstract

Purpose

Methods

Results

Conclusions

ACC 2024 Congress

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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