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Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch nodules, ocular and eyelid neurofibromas, eyelid café-au-lait spots and optic pathway gliomas (OPGs)...

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Autores principales: Mallone, Fabiana, Alisi, Ludovico, Lucchino, Luca, Di Martino, Valerio, Nebbioso, Marcella, Armentano, Marta, Lambiase, Alessandro, Moramarco, Antonietta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10488231/
https://www.ncbi.nlm.nih.gov/pubmed/37686284
http://dx.doi.org/10.3390/ijms241713481
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author Mallone, Fabiana
Alisi, Ludovico
Lucchino, Luca
Di Martino, Valerio
Nebbioso, Marcella
Armentano, Marta
Lambiase, Alessandro
Moramarco, Antonietta
author_facet Mallone, Fabiana
Alisi, Ludovico
Lucchino, Luca
Di Martino, Valerio
Nebbioso, Marcella
Armentano, Marta
Lambiase, Alessandro
Moramarco, Antonietta
author_sort Mallone, Fabiana
collection PubMed
description Neurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch nodules, ocular and eyelid neurofibromas, eyelid café-au-lait spots and optic pathway gliomas (OPGs). In the last years, new manifestations have been identified in the ocular district in NF1 including choroidal abnormalities (CAs), hyperpigmented spots (HSs) and retinal vascular abnormalities (RVAs). Recent advances in multi-modality imaging in ophthalmology have allowed for the improved characterization of these clinical signs. Accordingly, CAs, easily detectable as bright patchy nodules on near-infrared imaging, have recently been added to the revised diagnostic criteria for NF1 due to their high specificity and sensitivity. Furthermore, subclinical alterations of the visual pathways, regardless of the presence of OPGs, have been recently described in NF1, with a primary role of neurofibromin in the myelination process. In this paper, we reviewed the latest progress in the understanding of choroidal and retinal abnormalities in NF1 patients. The clinical significance of the recently revised diagnostic criteria for NF1 is discussed along with new updates in molecular diagnosis. New insights into NF1-related neuro-ophthalmic manifestations are also provided based on electrophysiological and optical coherence tomography (OCT) studies.
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spelling pubmed-104882312023-09-09 Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1 Mallone, Fabiana Alisi, Ludovico Lucchino, Luca Di Martino, Valerio Nebbioso, Marcella Armentano, Marta Lambiase, Alessandro Moramarco, Antonietta Int J Mol Sci Review Neurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch nodules, ocular and eyelid neurofibromas, eyelid café-au-lait spots and optic pathway gliomas (OPGs). In the last years, new manifestations have been identified in the ocular district in NF1 including choroidal abnormalities (CAs), hyperpigmented spots (HSs) and retinal vascular abnormalities (RVAs). Recent advances in multi-modality imaging in ophthalmology have allowed for the improved characterization of these clinical signs. Accordingly, CAs, easily detectable as bright patchy nodules on near-infrared imaging, have recently been added to the revised diagnostic criteria for NF1 due to their high specificity and sensitivity. Furthermore, subclinical alterations of the visual pathways, regardless of the presence of OPGs, have been recently described in NF1, with a primary role of neurofibromin in the myelination process. In this paper, we reviewed the latest progress in the understanding of choroidal and retinal abnormalities in NF1 patients. The clinical significance of the recently revised diagnostic criteria for NF1 is discussed along with new updates in molecular diagnosis. New insights into NF1-related neuro-ophthalmic manifestations are also provided based on electrophysiological and optical coherence tomography (OCT) studies. MDPI 2023-08-30 /pmc/articles/PMC10488231/ /pubmed/37686284 http://dx.doi.org/10.3390/ijms241713481 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Mallone, Fabiana
Alisi, Ludovico
Lucchino, Luca
Di Martino, Valerio
Nebbioso, Marcella
Armentano, Marta
Lambiase, Alessandro
Moramarco, Antonietta
Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1
title Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1
title_full Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1
title_fullStr Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1
title_full_unstemmed Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1
title_short Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1
title_sort insights into novel choroidal and retinal clinical signs in neurofibromatosis type 1
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10488231/
https://www.ncbi.nlm.nih.gov/pubmed/37686284
http://dx.doi.org/10.3390/ijms241713481
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