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Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update Surveillance, Treatment Indications, and Biomarkers of Vision

de Blank, Peter M. K. MD, MSCE; Fisher, Michael J. MD; Liu, Grant T. MD; Gutmann, David H. MD, PhD; Listernick, Robert MD; Ferner, Rosalie E. MD; Avery, Robert A. DO, MSCE

Journal of Neuro-Ophthalmology: September 2017 - Volume 37 - Issue - p S23–S32
doi: 10.1097/WNO.0000000000000550
Original Contribution

Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1), leading to visual deficits in fewer than half of these individuals. The goal of chemotherapy is to preserve vision, but vision loss in NF1-associated OPG can be unpredictable. Determining which child would benefit from chemotherapy and, equally important, which child is better observed without treatment can be difficult. Unfortunately, despite frequent imaging and ophthalmologic evaluations, some children experience progressive vision loss before treatment. Indications for chemotherapy usually are based on a comprehensive, quantitative assessment of vision, but reliable vision evaluation can be challenging in young children with NF1-OPG. The ability to identify and predict impending vision loss could potentially improve management decisions and visual outcomes. To address this challenge, ophthalmologic, electrophysiologic, and imaging biomarkers of vision in NF1-OPG have been proposed. We review current recommendations for the surveillance of children at risk for NF1-OPG, outline guidelines for initiating therapy, and describe the utility of proposed biomarkers for vision.

Cancer and Blood Diseases Institute (PMKdB), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics (PMKdB), University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Oncology (MJF), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics (MJF), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Neuro-Ophthalmology Service (GTL, RAA), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Departments of Neurology and Ophthalmology (GTL, RAA), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Neurofibromatosis Center and Department of Neurology (DHG), Washington University, St. Louis, Missouri; Department of Pediatrics (RL), Ann & Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University, Chicago, Illinois; Neurofibromatosis Centre, Department of Neurology (REF), Guy's and St. Thomas' NHS Foundation Trust; and Department of Clinical Neuroscience (REF), King's College, London, United Kingdom.

Address correspondence to Peter M. K. de Blank, MD, MSCE, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229; E-mail:

Supported in part by the St. Baldrick's Scholar Award (P.M.K.d.B.) and the National Eye Institute, Bethesda, MD (K23-EY022673, R.A.A.).

The authors report no conflicts of interest.

© 2017 by North American Neuro-Ophthalmology Society