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Orbital Neurofibromatosis Type 1
H. Christian Davidson, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Neurofibromatosis type 1 (NF1), plexiform neurofibroma (PNF), optic nerve glioma (ONG), sphenoid dysplasia (SD)
              • Synonyms

                • von Recklinghausen disease
              • Definitions

                • Neurocutaneousdisorder (inherited tumor syndrome) with distinct orbitofacial and cranial manifestations

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Ultrasonographic Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Staging, Grading, & Classification

                                • Gross Pathologic & Surgical Features

                                  • Microscopic Features

                                    CLINICAL ISSUES

                                    • Presentation

                                      • Demographics

                                        • Natural History & Prognosis

                                          • Treatment

                                            DIAGNOSTIC CHECKLIST

                                            • Consider

                                              • Image Interpretation Pearls

                                                Selected References

                                                1. Avery RA et al: Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas. Am J Ophthalmol. 155(6):1089-1094, 2013
                                                2. Gandhi NG: Treatment of neuro-ophthalmic and orbitofacial manifestations of neurofibromatosis type 1. Curr Opin Ophthalmol. 24(5):506-11, 2013
                                                3. Coban-Karatas M et al: Management of facial disfigurement in orbitotemporal neurofibromatosis. Ophthal Plast Reconstr Surg. 26(2):124-6, 2010
                                                4. Acartürk TO et al: Excision and "transcutaneous" lift in patients with neurofibromatosis of the fronto-temporo-orbital and auricular regions. J Craniofac Surg. 20(3):771-4, 2009
                                                5. Chen JY et al: Orbital plexiform neurofibroma and high axial myopia. Ophthal Plast Reconstr Surg. 24(4):284-6, 2008
                                                6. Erb MH et al: Orbitotemporal neurofibromatosis: classification and treatment. Orbit. 26(4):223-8, 2007
                                                7. Ferner RE: Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 6(4):340-51, 2007
                                                8. Yohay KH: The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 13(1):21-6, 2006
                                                9. Zeid JL et al: Orbital optic nerve gliomas in children with neurofibromatosis type 1. J AAPOS. 10(6):534-9, 2006
                                                10. Lee V et al: Orbitotemporal neurofibromatosis. Clinical features and surgical management. Ophthalmology. 111(2):382-8, 2004
                                                11. Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
                                                12. Ferner RE et al: International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 62(5):1573-7, 2002
                                                13. Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
                                                14. Rasmussen SA et al: NF1 gene and neurofibromatosis 1. Am J Epidemiol. 151(1):33-40, 2000
                                                15. Heinz GW et al: The effect of buphthalmos on orbital growth in early childhood: increased orbital soft tissue volume strongly correlates with increased orbital volume. J AAPOS. 2(1):39-42, 1998
                                                16. Snyder BJ et al: Transcranial correction of orbital neurofibromatosis. Plast Reconstr Surg. 102(3):633-42, 1998
                                                17. Krastinova-Lolov D et al: The surgical management of cranio-orbital neurofibromatosis. Ann Plast Surg. 36(3):263-9, 1996
                                                18. Macfarlane R et al: Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report. Neurosurgery. 37(1):129-33, 1995
                                                19. Lövblad KO et al: Dural ectasia of the optic nerve sheath in neurofibromatosis type 1: CT and MR features. J Comput Assist Tomogr. 18(5):728-30, 1994
                                                20. Smith M et al: Imaging and differential diagnosis of the large eye. Radiographics. 14(4):721-8, 1994
                                                21. Reed D et al: Plexiform neurofibromatosis of the orbit: CT evaluation. AJNR Am J Neuroradiol. 7(2):259-63, 1986
                                                Related Anatomy
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                                                Related Differential Diagnoses
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                                                References
                                                Tables

                                                Tables

                                                KEY FACTS

                                                • Terminology

                                                  • Imaging

                                                    • Top Differential Diagnoses

                                                      • Pathology

                                                        • Clinical Issues

                                                          • Diagnostic Checklist

                                                            TERMINOLOGY

                                                            • Abbreviations

                                                              • Neurofibromatosis type 1 (NF1), plexiform neurofibroma (PNF), optic nerve glioma (ONG), sphenoid dysplasia (SD)
                                                            • Synonyms

                                                              • von Recklinghausen disease
                                                            • Definitions

                                                              • Neurocutaneousdisorder (inherited tumor syndrome) with distinct orbitofacial and cranial manifestations

                                                            IMAGING

                                                            • General Features

                                                              • Radiographic Findings

                                                                • CT Findings

                                                                  • MR Findings

                                                                    • Ultrasonographic Findings

                                                                      • Imaging Recommendations

                                                                        DIFFERENTIAL DIAGNOSIS

                                                                          PATHOLOGY

                                                                          • General Features

                                                                            • Staging, Grading, & Classification

                                                                              • Gross Pathologic & Surgical Features

                                                                                • Microscopic Features

                                                                                  CLINICAL ISSUES

                                                                                  • Presentation

                                                                                    • Demographics

                                                                                      • Natural History & Prognosis

                                                                                        • Treatment

                                                                                          DIAGNOSTIC CHECKLIST

                                                                                          • Consider

                                                                                            • Image Interpretation Pearls

                                                                                              Selected References

                                                                                              1. Avery RA et al: Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas. Am J Ophthalmol. 155(6):1089-1094, 2013
                                                                                              2. Gandhi NG: Treatment of neuro-ophthalmic and orbitofacial manifestations of neurofibromatosis type 1. Curr Opin Ophthalmol. 24(5):506-11, 2013
                                                                                              3. Coban-Karatas M et al: Management of facial disfigurement in orbitotemporal neurofibromatosis. Ophthal Plast Reconstr Surg. 26(2):124-6, 2010
                                                                                              4. Acartürk TO et al: Excision and "transcutaneous" lift in patients with neurofibromatosis of the fronto-temporo-orbital and auricular regions. J Craniofac Surg. 20(3):771-4, 2009
                                                                                              5. Chen JY et al: Orbital plexiform neurofibroma and high axial myopia. Ophthal Plast Reconstr Surg. 24(4):284-6, 2008
                                                                                              6. Erb MH et al: Orbitotemporal neurofibromatosis: classification and treatment. Orbit. 26(4):223-8, 2007
                                                                                              7. Ferner RE: Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 6(4):340-51, 2007
                                                                                              8. Yohay KH: The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 13(1):21-6, 2006
                                                                                              9. Zeid JL et al: Orbital optic nerve gliomas in children with neurofibromatosis type 1. J AAPOS. 10(6):534-9, 2006
                                                                                              10. Lee V et al: Orbitotemporal neurofibromatosis. Clinical features and surgical management. Ophthalmology. 111(2):382-8, 2004
                                                                                              11. Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
                                                                                              12. Ferner RE et al: International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 62(5):1573-7, 2002
                                                                                              13. Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
                                                                                              14. Rasmussen SA et al: NF1 gene and neurofibromatosis 1. Am J Epidemiol. 151(1):33-40, 2000
                                                                                              15. Heinz GW et al: The effect of buphthalmos on orbital growth in early childhood: increased orbital soft tissue volume strongly correlates with increased orbital volume. J AAPOS. 2(1):39-42, 1998
                                                                                              16. Snyder BJ et al: Transcranial correction of orbital neurofibromatosis. Plast Reconstr Surg. 102(3):633-42, 1998
                                                                                              17. Krastinova-Lolov D et al: The surgical management of cranio-orbital neurofibromatosis. Ann Plast Surg. 36(3):263-9, 1996
                                                                                              18. Macfarlane R et al: Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report. Neurosurgery. 37(1):129-33, 1995
                                                                                              19. Lövblad KO et al: Dural ectasia of the optic nerve sheath in neurofibromatosis type 1: CT and MR features. J Comput Assist Tomogr. 18(5):728-30, 1994
                                                                                              20. Smith M et al: Imaging and differential diagnosis of the large eye. Radiographics. 14(4):721-8, 1994
                                                                                              21. Reed D et al: Plexiform neurofibromatosis of the orbit: CT evaluation. AJNR Am J Neuroradiol. 7(2):259-63, 1986