Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1

M. A. Blazo, R. A. Lewis, Murali Chintagumpala, M. Frazier, C. MeCluggage, Sharon E. Plon

Research output: Contribution to journalArticlepeer-review

95 Scopus citations


Optic pathway tumors (OPT) occur in about 15% of individuals with Neurofibromatosis Type 1 (NF1) and may effect substantial visual loss. Because their growth is not predictable at the time of discovery, neuroimaging for OPT in asymptomatic NF1 patients remains controversial. We evaluated the outcomes of systematic screening by both MRI and ophthalmic examinations for OPT in young children with NF1 seen at multidisciplinary clinics for Neurofibromatosis and Genetics at one institution between 1996 and 2001. We report on 84 children who presented with NF1 under age 6 years, of whom 13 children presented with either known OPT or abnormal MRI findings and 11 children had OPTs identified by neuroimaging, including two children with abnormal eye examinations at presentation (one with strabismus and one with optic atrophy). Nine OPTs were detected in asymptomatic subjects with normal ophthalmic examinations. Three children with chiasmal lesions enlarging on subsequent MRI were treated with carboplatin and vincristine. After treatment, the vision in each involved eye was intact. In contrast, the 13 children with OPT diagnosed outside of screening guidelines included five children with substantial visual loss. Our observations suggest that early recognition of NF1 promotes appropriate surveillance and allows early intervention to reduce complications of OPT. This analysis supports prospective studies to compare the outcomes of systematic screening with neuroimaging to screening with ophthalmic examinations alone in children with NF1.

Original languageEnglish (US)
Pages (from-to)224-229
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - Jun 2004


  • Neurofibromatosis
  • Neuroimaging
  • Optic pathway tumor

ASJC Scopus subject areas

  • Genetics(clinical)


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