NF1: Ophthalmic Issues

Children with neurofibromatosis type 1 (NF1) should have an ophthalmologic evaluation by an experienced ophthalmologist yearly. The primary care physician should perform a routine eye exam looking for proptosis, strabismus, etc., but the typical findings of NF1 usually can only be seen by an experienced ophthalmologist. Lisch nodules are benign iris hamartomas that aid in the diagnosis of NF1, but have no clinical consequences. Optic pathway tumors often can be picked up by clinical exam by an experienced ophthalmologist (pale optic nerve) and then confirmed by MRI scan. Asymptomatic patients are followed closely with dedicated sequential brain MRI studies. If there is vision loss or increased growth of the tumor as measured by sequential MRI, then medical management is initiated with low-level chemotherapy. If patients progress on chemotherapy, intracranial radiation therapy is considered. This is a difficult decision because children will likely have residual hypothalamic-pituitary dysfunction and NF1 individuals have a higher risk for secondary tumors incident to radiation therapy and vascular changes similar to Moya-Moya. These treatment options are considered, but the tumors may regress or remain stable in NF1 patients. [Listernick: 1999] This is an ongoing area of research, therefore referral to neurooncology is indicated.

Authors & Reviewers

Current Authors and Reviewers:
Author: David A. Stevenson, MD
Reviewers: Karin Dent, MS, CGC
David Viskochil, MD, Ph.D.

Page Bibliography

Listernick R, Gutmann DH.
Tumors of the optic pathway.
Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. 1999; 203-230. Baltimore, MD: Johns Hopkins University Press
Section, in book on NF1, reviewing optic pathway tumors by some of the world experts on NF1.