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Coloboma
H. Christian Davidson, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Optic disc coloboma (ODC)
                • Choroidoretinal coloboma (CRC)
              • Synonyms

                • Optic nerve coloboma = optic disc coloboma
              • Definitions

                • Coloboma = gap or defect of ocular tissue
                • Types of posterior coloboma
                  • ODC: Excavation confined to optic disc
                  • CRC: Defect separate from or extends beyond disc
                    • Paramacular subtype located temporal to macula
                • Related anomalies
                  • Morning glory disc anomaly (MGDA): Defect with glial tissue & pigmented rim
                  • Peripapillary staphyloma (PPS): Congenital scleral defect at optic nerve head
                • Other colobomatous lesions
                  • May involve any or all structures of embryonic cleft
                    • Iris, ciliary body, lens, or eyelid
                  • Fuchs coloboma
                    • Inferiorly tilted disc with crescent-shaped defect along inferonasal margin

              IMAGING

              • General Features

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      • Optical Coherence Tomography (OCT)

                        • 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. Gujar SK et al: Congenital malformations of the orbit. Neuroimaging Clin N Am. 21(3):585-602, viii, 2011
                                                2. Gopal L: A clinical and optical coherence tomography study of choroidal colobomas. Curr Opin Ophthalmol. 19(3):248-54, 2008
                                                3. Righini A et al: Prenatal magnetic resonance imaging of optic nerve head coloboma. Prenat Diagn. 28(3):242-6, 2008
                                                4. Altun E et al: Anterior coloboma with macrophthalmos and cyst: MR findings. Clin Imaging. 29(6):430-3, 2005
                                                5. Vogt G et al: A population-based case-control study of isolated ocular coloboma. Ophthalmic Epidemiol. 12(3):191-7, 2005
                                                6. Chan RT et al: Morning glory syndrome. Clin Exp Optom. 85(6):383-8, 2002
                                                7. Morrison D et al: National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet. 39(1):16-22, 2002
                                                8. Hornby SJ et al: Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma. Ophthalmic Epidemiol. 7(2):127-38, 2000
                                                9. Hornby SJ et al: Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology. 107(3):511-20, 2000
                                                10. Onwochei BC et al: Ocular Colobomata. Surv Ophthalmol. 45:175-94, 2000
                                                11. Pruett RC: Complications associated with posterior staphyloma. Curr Opin Ophthalmol. 9(3):16-22, 1998
                                                12. Gottlieb JL et al: Peripapillary staphyloma. Am J Ophthalmol. 124(2):249-51, 1997
                                                13. Warburg M: An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. Ophthalmic Paediatr Genet. 12(2):57-63, 1991
                                                14. Mafee MF et al: Computed tomography of optic nerve colobomas, morning glory anomaly, and colobomatous cyst. Radiol Clin North Am. 25(4):693-9, 1987
                                                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

                                                              • Optic disc coloboma (ODC)
                                                              • Choroidoretinal coloboma (CRC)
                                                            • Synonyms

                                                              • Optic nerve coloboma = optic disc coloboma
                                                            • Definitions

                                                              • Coloboma = gap or defect of ocular tissue
                                                              • Types of posterior coloboma
                                                                • ODC: Excavation confined to optic disc
                                                                • CRC: Defect separate from or extends beyond disc
                                                                  • Paramacular subtype located temporal to macula
                                                              • Related anomalies
                                                                • Morning glory disc anomaly (MGDA): Defect with glial tissue & pigmented rim
                                                                • Peripapillary staphyloma (PPS): Congenital scleral defect at optic nerve head
                                                              • Other colobomatous lesions
                                                                • May involve any or all structures of embryonic cleft
                                                                  • Iris, ciliary body, lens, or eyelid
                                                                • Fuchs coloboma
                                                                  • Inferiorly tilted disc with crescent-shaped defect along inferonasal margin

                                                            IMAGING

                                                            • General Features

                                                              • CT Findings

                                                                • MR Findings

                                                                  • Ultrasonographic Findings

                                                                    • Optical Coherence Tomography (OCT)

                                                                      • 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. Gujar SK et al: Congenital malformations of the orbit. Neuroimaging Clin N Am. 21(3):585-602, viii, 2011
                                                                                              2. Gopal L: A clinical and optical coherence tomography study of choroidal colobomas. Curr Opin Ophthalmol. 19(3):248-54, 2008
                                                                                              3. Righini A et al: Prenatal magnetic resonance imaging of optic nerve head coloboma. Prenat Diagn. 28(3):242-6, 2008
                                                                                              4. Altun E et al: Anterior coloboma with macrophthalmos and cyst: MR findings. Clin Imaging. 29(6):430-3, 2005
                                                                                              5. Vogt G et al: A population-based case-control study of isolated ocular coloboma. Ophthalmic Epidemiol. 12(3):191-7, 2005
                                                                                              6. Chan RT et al: Morning glory syndrome. Clin Exp Optom. 85(6):383-8, 2002
                                                                                              7. Morrison D et al: National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet. 39(1):16-22, 2002
                                                                                              8. Hornby SJ et al: Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma. Ophthalmic Epidemiol. 7(2):127-38, 2000
                                                                                              9. Hornby SJ et al: Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology. 107(3):511-20, 2000
                                                                                              10. Onwochei BC et al: Ocular Colobomata. Surv Ophthalmol. 45:175-94, 2000
                                                                                              11. Pruett RC: Complications associated with posterior staphyloma. Curr Opin Ophthalmol. 9(3):16-22, 1998
                                                                                              12. Gottlieb JL et al: Peripapillary staphyloma. Am J Ophthalmol. 124(2):249-51, 1997
                                                                                              13. Warburg M: An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. Ophthalmic Paediatr Genet. 12(2):57-63, 1991
                                                                                              14. Mafee MF et al: Computed tomography of optic nerve colobomas, morning glory anomaly, and colobomatous cyst. Radiol Clin North Am. 25(4):693-9, 1987