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Septo-Optic Dysplasia
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Septo-optic dysplasia (SOD)
            • Definitions

              • Association of optic nerve hypoplasia (ONH) with midline brain malformations ± hypopituitarism
              • Recent studies suggest that ONH, hypopituitarism, and absent septum pellucidum (SP), though frequently associated under umbrella term of SOD, do not have embryologic linkage
                • ONH is leading cause of congenital blindness
                • Children with ONH require careful monitoring for associated conditions
                  • Terms SOD and De Morsier syndrome are historically inaccurate and clinically misleading
              • SOD plus: Term coined for cases with additional brain malformations
                • May just reflect association of ONH, endocrine dysfunction, and developmental delay with complex brain malformation

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Ward DJ et al: Review of the MRI brain findings of septo-optic dysplasia. Clin Radiol. 76(2):160.e1-14, 2021
                                    2. Maduram A et al: Fetal ultrasound and magnetic resonance imaging findings in suspected septo-optic dysplasia: a diagnostic dilemma. J Ultrasound Med. 39(8):1601-14, 2020
                                    3. Shinar S et al: Long-term postnatal outcomes of fetuses with prenatally suspected septo-optic dysplasia. Ultrasound Obstet Gynecol. 56(3):371-7, 2020
                                    4. Haratz KK et al: Ultrasound nomograms of the fetal optic nerve sheath diameter. Ultraschall Med. 40(4):476-80, 2019
                                    5. Garne E et al: Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study. Eur J Med Genet. 61(9):483-8, 2018
                                    6. Pilliod RA et al: Diagnostic accuracy and clinical outcomes associated with prenatal diagnosis of fetal absent cavum septi pellucidi. Prenat Diagn. 38(6):395-401, 2018
                                    7. Vawter-Lee MM et al: Outcome of isolated absent septum pellucidum diagnosed by fetal magnetic resonance imaging (MRI) scan. J Child Neurol. 33(11):693-9, 2018
                                    8. Cemeroglu AP et al: Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. J Pediatr Endocrinol Metab. 28(9-10):1057-63, 2015
                                    9. Cagneaux M et al: From cavum septi pellucidi to anterior complex: how to improve detection of midline cerebral abnormalities. Ultrasound Obstet Gynecol. 42(4):485-6, 2013
                                    10. Garcia-Filion P et al: Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol. 15(1):78-89, 2013
                                    11. Garcia-Filion P et al: Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. Surv Ophthalmol. 58(6):610-9, 2013
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Septo-optic dysplasia (SOD)
                                              • Definitions

                                                • Association of optic nerve hypoplasia (ONH) with midline brain malformations ± hypopituitarism
                                                • Recent studies suggest that ONH, hypopituitarism, and absent septum pellucidum (SP), though frequently associated under umbrella term of SOD, do not have embryologic linkage
                                                  • ONH is leading cause of congenital blindness
                                                  • Children with ONH require careful monitoring for associated conditions
                                                    • Terms SOD and De Morsier syndrome are historically inaccurate and clinically misleading
                                                • SOD plus: Term coined for cases with additional brain malformations
                                                  • May just reflect association of ONH, endocrine dysfunction, and developmental delay with complex brain malformation

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Demographics

                                                                • Natural History & Prognosis

                                                                  • Treatment

                                                                    DIAGNOSTIC CHECKLIST

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Ward DJ et al: Review of the MRI brain findings of septo-optic dysplasia. Clin Radiol. 76(2):160.e1-14, 2021
                                                                      2. Maduram A et al: Fetal ultrasound and magnetic resonance imaging findings in suspected septo-optic dysplasia: a diagnostic dilemma. J Ultrasound Med. 39(8):1601-14, 2020
                                                                      3. Shinar S et al: Long-term postnatal outcomes of fetuses with prenatally suspected septo-optic dysplasia. Ultrasound Obstet Gynecol. 56(3):371-7, 2020
                                                                      4. Haratz KK et al: Ultrasound nomograms of the fetal optic nerve sheath diameter. Ultraschall Med. 40(4):476-80, 2019
                                                                      5. Garne E et al: Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study. Eur J Med Genet. 61(9):483-8, 2018
                                                                      6. Pilliod RA et al: Diagnostic accuracy and clinical outcomes associated with prenatal diagnosis of fetal absent cavum septi pellucidi. Prenat Diagn. 38(6):395-401, 2018
                                                                      7. Vawter-Lee MM et al: Outcome of isolated absent septum pellucidum diagnosed by fetal magnetic resonance imaging (MRI) scan. J Child Neurol. 33(11):693-9, 2018
                                                                      8. Cemeroglu AP et al: Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. J Pediatr Endocrinol Metab. 28(9-10):1057-63, 2015
                                                                      9. Cagneaux M et al: From cavum septi pellucidi to anterior complex: how to improve detection of midline cerebral abnormalities. Ultrasound Obstet Gynecol. 42(4):485-6, 2013
                                                                      10. Garcia-Filion P et al: Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol. 15(1):78-89, 2013
                                                                      11. Garcia-Filion P et al: Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. Surv Ophthalmol. 58(6):610-9, 2013