The Asia-Pacific Journal of Ophthalmology

Asia-Pacific Journal of Ophthalmology:

Issue 1, January/February 2019 Review Article

Neurofibromatosis Type 1: Review and Update on Emerging Therapies

Karaconji, Tanya; Whist, Eline; Jamieson, Robyn V.; Flaherty, Maree P.; Grigg, John R.B.

Author Information

From the *Discipline of Ophthalmology, Save Sight Institute, Sydney Medical School, University of Sydney, Sydney, Australia; †Manchester Royal Eye Hospital, Manchester, United Kingdom; ‡Royal Darwin Hospital, Darwin, Australia; §Disciplines of Paediatrics, Genomic Medicine and Ophthalmology, Sydney Medical School, University of Sydney; ¶Eye Genetics Research Unit, Children’s Medical Research Institute, University of Sydney, Sydney; ǁSave Sight Institute and Eye Genetics Clinics, The Children’s Hospital at Westmead; **Westmead Hospital, Sydney; ††Department of Ophthalmology, The Children’s Hospital at Westmead, Sydney; and ‡‡Sydney Eye Hospital, Sydney, Australia.

Reprints: Tanya Karaconji, FRANZCO, Discipline of Ophthalmology, Save Sight Institute, Sydney Medical School, University of Sydney, NSW 2006, Australia.


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.

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