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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


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

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