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IP International Journal of Ocular Oncology and Oculoplasty

Clinical and ophthalmological manifestations in Neurofibromatosis Type1- An overview

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Author Details : Sucheta Parija, Jyotiranjan Mallik

Volume : 2, Issue : 2, Year : 2016

Article Page : 80-85

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Neurofibromatosis type 1 is an autosomal dominant, multisystem disorder affecting NF1 gene on chromosome 17. Ophthalmological manifestations of NF1 include lisch nodules, plexiform neurofibromas, malignant peripheral nerve sheath tumor, optic nerve glioma, choroid hamartomas, retinal tumors, congenital glaucoma and prominent corneal nerves. The diagnosis is based on the clinical features. Careful monitoring of the course of the disease along with management by multidisciplinary approach is necessary. Symptomatic neurofibromas and malignant peripheral nerve sheath tumors are treated by complete surgical removal. Optic nerve glioma treatment is not required as long as they are asymptomatic and clinically stable. The treatment of congenital glaucoma includes both medical and surgical therapy. Visual prognosis depends primarily on the presence or absence of optic pathway glioma or congenital glaucoma. Prenatal counselling is necessary as offspring of an affected individual has 50% risk of inheriting the autosomal dominant disease. This paper describes the variety of ocular and extraocular findings in NF1and the ophthalmologist’s role in diagnosis and management of NF1.

Lisch nodules, Optic nerve glioma, Neurofibromatosis type 1

How to cite : Parija S, Mallik J, Clinical and ophthalmological manifestations in Neurofibromatosis Type1- An overview. IP Int J Ocul Oncol Oculoplasty 2016;2(2):80-85

Copyright © 2016 by author(s) and IP Int J Ocul Oncol Oculoplasty. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (CC-BY-NC 4.0) (