Please use this identifier to cite or link to this item: http://docs.prosentient.com.au/prosentientjspui/handle/1/10908
Title: Neurofibromatosis Type 1: Review and Update on Emerging Therapies.
Authors: Karaconji, Tanya
Whist, Eline
Jamieson, Robyn V
Flaherty, Maree P
Grigg, John R B
Affiliation: Discipline of Ophthalmology, Save Sight Institute, Sydney Medical School, University of Sydney, Sydney, Australia.. Manchester Royal Eye Hospital, Manchester, United Kingdom..
Discipline of Ophthalmology, Save Sight Institute, Sydney Medical School, University of Sydney, Sydney, Australia.. Royal Darwin Hospital, Darwin, Australia..
Disciplines of Paediatrics, Genomic Medicine and Ophthalmology, Sydney Medical School, University of Sydney, Sydney, Australia.. Eye Genetics Research Unit, Children's Medical Research Institute, University of Sydney, Sydney, Australia.. Save Sight Institute and Eye Genetics Clinics, The Children's Hospital at Westmead, Sydney, Australia.. Westmead Hospital, Sydney, Australia..
Discipline of Ophthalmology, Save Sight Institute, Sydney Medical School, University of Sydney, Sydney, Australia.. Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, Australia..
Discipline of Ophthalmology, Save Sight Institute, Sydney Medical School, University of Sydney, Sydney, Australia.. Eye Genetics Research Unit, Children's Medical Research Institute, University of Sydney, Sydney, Australia.. Save Sight Institute and Eye Genetics Clinics, The Children's Hospital at Westmead, Sydney, Australia.. Sydney Eye Hospital, Sydney, Australia..
Issue Date: 2-Nov-2018
Citation: Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) 2018-11-02
Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder affecting 1:3000 births. This familial tumor predisposition syndrome is diagnosed clinically and affects the skin, bones, and nervous system. Malignant tumors can arise in childhood or adulthood and are the commonest cause of mortality in this population. Early diagnosis and management led by a multidisciplinary team remains the standard of care, particularly in the management of optic pathway glioma. Emerging concepts in the genetic patterns of this condition have led to the introduction of new treatment modalities that target the mitogen activated protein kinase (MAPK) and the mammalian target of rapamycin (mTOR) pathways. The role of the ophthalmologist and approach to screening for optic pathway glioma is outlined based on previous recommendations. Updates on choroidal involvement, as a diagnostic criterion, will also be discussed, further highlighting the pivotal role of the ophthalmologist in the diagnosis and management of this complex condition.
URI: http://docs.prosentient.com.au/prosentientjspui/handle/1/10908
DOI: 10.22608/APO.2018182
Type: Journal Article
Subjects: NF1
choroidal nodules
optic pathway glioma
phakomatoses
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