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Coloboma
Bernadette L. Koch, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Optic nerve coloboma
              • Definitions

                • Coloboma: Gap or defect of ocular tissue
                • Types of posterior coloboma
                  • Optic disc coloboma (ODC): Excavation confined to optic disc
                  • Choroidoretinal coloboma (CRC): Defect separate from or extends beyond disc
                    • Paramacular subtype located temporal to macula
                • Related but distinctly different anomalies
                  • Morning glory disc anomaly (MGDA): Defect with glial tissue and pigmented rim
                  • Peripapillary staphyloma (PPS): Congenital scleral excavation 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

                        • 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. Lingam G et al: Ocular coloboma-a comprehensive review for the clinician. Eye (Lond). 35(8):2086-109, 2021
                                                2. Rootman MS et al: Neuroimaging in children with ophthalmological complaints: a review. J Neuroimaging. 31(3):446-58, 2021
                                                3. ALSomiry AS et al: An update on the genetics of ocular coloboma. Hum Genet. 138(8-9):865-80, 2019
                                                4. Kasim N et al: Craniopharyngeal canal, morning glory disc anomaly and hypopituitarism: what do they have in common? Oxf Med Case Reports. 2018(6):omy018, 2018
                                                5. Ponnatapura J: Morning glory syndrome with Moyamoya disease: a rare association with role of imaging. Indian J Radiol Imaging. 28(2):165-8, 2018
                                                6. Dar SA et al: Prenatal diagnosis of colobomatous microphthalmos. J Pediatr Ophthalmol Strabismus. 52 Online:e22-5, 2015
                                                7. Williamson KA et al: The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 57(8):369-80, 2014
                                                8. Ellika S et al: Morning glory disc anomaly: characteristic MR imaging findings. AJNR Am J Neuroradiol. 34(10):2010-4, 2013
                                                9. Schimmenti LA: Renal coloboma syndrome. Eur J Hum Genet. 19(12):1207-12, 2011
                                                10. Altun E et al: Anterior coloboma with macrophthalmos and cyst: MR findings. Clin Imaging. 29(6):430-3, 2005
                                                11. Vogt G et al: A population-based case-control study of isolated ocular coloboma. Ophthalmic Epidemiol. 12(3):191-7, 2005
                                                12. Chan RT et al: Morning glory syndrome. Clin Exp Optom. 85(6):383-8, 2002
                                                13. 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
                                                14. Hornby SJ et al: Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma. Ophthalmic Epidemiol. 7(2):127-38, 2000
                                                15. Hornby SJ et al: Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology. 107(3):511-20, 2000
                                                16. Onwochei BC et al: Ocular colobomata. Surv Ophthalmol. 45:175-94, 2000
                                                17. Gottlieb JL et al: Peripapillary staphyloma. Am J Ophthalmol. 124(2):249-51, 1997
                                                18. 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
                                                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

                                                            • Synonyms

                                                              • Optic nerve coloboma
                                                            • Definitions

                                                              • Coloboma: Gap or defect of ocular tissue
                                                              • Types of posterior coloboma
                                                                • Optic disc coloboma (ODC): Excavation confined to optic disc
                                                                • Choroidoretinal coloboma (CRC): Defect separate from or extends beyond disc
                                                                  • Paramacular subtype located temporal to macula
                                                              • Related but distinctly different anomalies
                                                                • Morning glory disc anomaly (MGDA): Defect with glial tissue and pigmented rim
                                                                • Peripapillary staphyloma (PPS): Congenital scleral excavation 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

                                                                      • 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. Lingam G et al: Ocular coloboma-a comprehensive review for the clinician. Eye (Lond). 35(8):2086-109, 2021
                                                                                              2. Rootman MS et al: Neuroimaging in children with ophthalmological complaints: a review. J Neuroimaging. 31(3):446-58, 2021
                                                                                              3. ALSomiry AS et al: An update on the genetics of ocular coloboma. Hum Genet. 138(8-9):865-80, 2019
                                                                                              4. Kasim N et al: Craniopharyngeal canal, morning glory disc anomaly and hypopituitarism: what do they have in common? Oxf Med Case Reports. 2018(6):omy018, 2018
                                                                                              5. Ponnatapura J: Morning glory syndrome with Moyamoya disease: a rare association with role of imaging. Indian J Radiol Imaging. 28(2):165-8, 2018
                                                                                              6. Dar SA et al: Prenatal diagnosis of colobomatous microphthalmos. J Pediatr Ophthalmol Strabismus. 52 Online:e22-5, 2015
                                                                                              7. Williamson KA et al: The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 57(8):369-80, 2014
                                                                                              8. Ellika S et al: Morning glory disc anomaly: characteristic MR imaging findings. AJNR Am J Neuroradiol. 34(10):2010-4, 2013
                                                                                              9. Schimmenti LA: Renal coloboma syndrome. Eur J Hum Genet. 19(12):1207-12, 2011
                                                                                              10. Altun E et al: Anterior coloboma with macrophthalmos and cyst: MR findings. Clin Imaging. 29(6):430-3, 2005
                                                                                              11. Vogt G et al: A population-based case-control study of isolated ocular coloboma. Ophthalmic Epidemiol. 12(3):191-7, 2005
                                                                                              12. Chan RT et al: Morning glory syndrome. Clin Exp Optom. 85(6):383-8, 2002
                                                                                              13. 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
                                                                                              14. Hornby SJ et al: Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma. Ophthalmic Epidemiol. 7(2):127-38, 2000
                                                                                              15. Hornby SJ et al: Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology. 107(3):511-20, 2000
                                                                                              16. Onwochei BC et al: Ocular colobomata. Surv Ophthalmol. 45:175-94, 2000
                                                                                              17. Gottlieb JL et al: Peripapillary staphyloma. Am J Ophthalmol. 124(2):249-51, 1997
                                                                                              18. 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