Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography

Barmak Abdolrahimzadeh,1 Domenica Carmen Piraino,2 Giorgio Albanese,2 Filippo Cruciani,2 Siavash Rahimi3 1Polimed Beltramelli Medical Center, Rome, Italy; 2Section of Ophthalmology, Department of Sense Organs, University of Rome “Sapienza”, Rome, Italy; 3Pathology Centre, Queen...

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Autores principales:	Abdolrahimzadeh B, Piraino DC, Albanese G, Cruciani F, Rahimi S
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2016
Materias:	neurofibromatosis ophthalmic reflectance optical coherence tomography Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/6caaa07e9e98413da872802e00306730
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spelling	oai:doaj.org-article:6caaa07e9e98413da872802e003067302021-12-02T05:24:22ZNeurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography1177-5483https://doaj.org/article/6caaa07e9e98413da872802e003067302016-05-01T00:00:00Zhttps://www.dovepress.com/neurofibromatosis-an-update-of-ophthalmic-characteristics-and-applicat-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Barmak Abdolrahimzadeh,1 Domenica Carmen Piraino,2 Giorgio Albanese,2 Filippo Cruciani,2 Siavash Rahimi3 1Polimed Beltramelli Medical Center, Rome, Italy; 2Section of Ophthalmology, Department of Sense Organs, University of Rome “Sapienza”, Rome, Italy; 3Pathology Centre, Queen Alexandra Hospital, Portsmouth, UK Abstract: Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on chromosome 22-22q12.2 in NF type 2. The disorder is characterized by considerable heterogeneity of clinical expression. NF1 is the form with the most characteristic ocular manifestations. Lisch nodules of the iris are among the well-known diagnostic criteria for the disease. Glaucoma and associated globe enlargement have been described in a significant proportion of patients with NF1 and orbital–facial involvement. Optic nerve glioma may cause strabismus and proptosis, and palpebral neurofibroma may reach considerable size and occasionally show malignant transformation. Near infrared reflectance has greatly contributed to enhancing our knowledge on choroidal alterations in NF1. Indeed, some authors have proposed to include these among the diagnostic criteria. Optical coherence tomography has given new insight on retinal alterations and is a noninvasive tool in the management of optic nerve gliomas in children. Ocular manifestations in NF type 2 can range from early-onset cataracts in up to 80% of cases to optic nerve hamartomas and combined pigment epithelial and retinal hamartomas. Keywords: neurofibromatosis, ophthalmic, optical coherence tomography, infrared reflectance, choroideal nodules, Lisch nodulesAbdolrahimzadeh BPiraino DCAlbanese GCruciani FRahimi SDove Medical PressarticleneurofibromatosisophthalmicreflectanceopticalcoherencetomographyOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2016, Iss Issue 1, Pp 851-860 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	neurofibromatosis ophthalmic reflectance optical coherence tomography Ophthalmology RE1-994
spellingShingle	neurofibromatosis ophthalmic reflectance optical coherence tomography Ophthalmology RE1-994 Abdolrahimzadeh B Piraino DC Albanese G Cruciani F Rahimi S Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography
description	Barmak Abdolrahimzadeh,1 Domenica Carmen Piraino,2 Giorgio Albanese,2 Filippo Cruciani,2 Siavash Rahimi3 1Polimed Beltramelli Medical Center, Rome, Italy; 2Section of Ophthalmology, Department of Sense Organs, University of Rome “Sapienza”, Rome, Italy; 3Pathology Centre, Queen Alexandra Hospital, Portsmouth, UK Abstract: Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on chromosome 22-22q12.2 in NF type 2. The disorder is characterized by considerable heterogeneity of clinical expression. NF1 is the form with the most characteristic ocular manifestations. Lisch nodules of the iris are among the well-known diagnostic criteria for the disease. Glaucoma and associated globe enlargement have been described in a significant proportion of patients with NF1 and orbital–facial involvement. Optic nerve glioma may cause strabismus and proptosis, and palpebral neurofibroma may reach considerable size and occasionally show malignant transformation. Near infrared reflectance has greatly contributed to enhancing our knowledge on choroidal alterations in NF1. Indeed, some authors have proposed to include these among the diagnostic criteria. Optical coherence tomography has given new insight on retinal alterations and is a noninvasive tool in the management of optic nerve gliomas in children. Ocular manifestations in NF type 2 can range from early-onset cataracts in up to 80% of cases to optic nerve hamartomas and combined pigment epithelial and retinal hamartomas. Keywords: neurofibromatosis, ophthalmic, optical coherence tomography, infrared reflectance, choroideal nodules, Lisch nodules
format	article
author	Abdolrahimzadeh B Piraino DC Albanese G Cruciani F Rahimi S
author_facet	Abdolrahimzadeh B Piraino DC Albanese G Cruciani F Rahimi S
author_sort	Abdolrahimzadeh B
title	Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography
title_short	Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography
title_full	Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography
title_fullStr	Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography
title_full_unstemmed	Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography
title_sort	neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography
publisher	Dove Medical Press
publishDate	2016
url	https://doaj.org/article/6caaa07e9e98413da872802e00306730
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Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography

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