Back to Journals » Clinical Ophthalmology » Volume 10

Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography
Authors Abdolrahimzadeh B, Carmen Piraino D, Albanese G, Cruciani F, Rahimi S
Received 19 December 2015
Accepted for publication 6 February 2016
Published 13 May 2016 Volume 2016:10 Pages 851—860
DOI https://doi.org/10.2147/OPTH.S102830
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Scott Fraser

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
This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.
By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.