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Coloboma
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • Gap or defect of ocular tissue
                • Optic disc coloboma is confined to optic disc
                • Choroidoretinal coloboma is separate from or extends beyond optic disc

            IMAGING

            • General Features

              • MR Findings

                • Ultrasonographic Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              • Image Interpretation Pearls

                                Selected References

                                1. Dar SA et al: Prenatal diagnosis of colobomatous microphthalmos. J Pediatr Ophthalmol Strabismus. 52 Online:e22-5, 2015
                                2. Brennan D et al: Ocular involvement in fetal alcohol spectrum disorder: a review. Curr Pharm Des. 20(34):5377-87, 2014
                                3. Herwig MC et al: Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. Pediatr Dev Pathol. 14(4):322-6, 2011
                                4. Cuturilo G et al: Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of presumed new dysmorphic syndrome. Birth Defects Res A Clin Mol Teratol. 82(3):166-8, 2008
                                5. Righini A et al: Prenatal magnetic resonance imaging of optic nerve head coloboma. Prenat Diagn. 28(3):242-6, 2008
                                6. Sermer D et al: Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. Am J Med Genet A. 143A(24):3286-9, 2007
                                7. Taylor D: Developmental abnormalities of the optic nerve and chiasm. Eye. 21(10):1271-84, 2007
                                8. Aramaki M et al: Iridic and retinal coloboma associated with prenatal methimazole exposure. Am J Med Genet A. 139A(2):156-8, 2005
                                9. Lasky JB et al: PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. J AAPOS. 8(5):495-8, 2004
                                10. Fahnehjelm KT et al: Visually impaired children with posterior ocular malformations: pre- and neonatal data and visual functions. Acta Ophthalmol Scand. 81(4):361-72, 2003
                                11. Hornby SJ et al: Environmental risk factors in congenital malformations of the eye. Ann Trop Paediatr. 22(1):67-77, 2002
                                12. Ford B et al: Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. Am J Med Genet. 99(2):137-41, 2001
                                13. Sutcliffe AG et al: Eye malformations associated with treatment with carbamazepine during pregnancy. Ophthalmic Genet. 19(2):59-62, 1998
                                14. Stoll C et al: Congenital eye malformations in 212,479 consecutive births. Ann Genet. 40(2):122-8, 1997
                                15. Magli A et al: Hereditary colobomatous anomalies of the optic nerve head. Ophthalmic Paediatr Genet. 7(2):127-30, 1986
                                16. Warburg M: Microphthalmos and colobomata among mentally retarded individuals. Acta Ophthalmol (Copenh). 59(5):665-73, 1981
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Pathology

                                      • Clinical Issues

                                        • Diagnostic Checklist

                                          TERMINOLOGY

                                          • Definitions

                                            • Gap or defect of ocular tissue
                                              • Optic disc coloboma is confined to optic disc
                                              • Choroidoretinal coloboma is separate from or extends beyond optic disc

                                          IMAGING

                                          • General Features

                                            • MR Findings

                                              • Ultrasonographic Findings

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Demographics

                                                        • Natural History & Prognosis

                                                          DIAGNOSTIC CHECKLIST

                                                          • Consider

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Dar SA et al: Prenatal diagnosis of colobomatous microphthalmos. J Pediatr Ophthalmol Strabismus. 52 Online:e22-5, 2015
                                                              2. Brennan D et al: Ocular involvement in fetal alcohol spectrum disorder: a review. Curr Pharm Des. 20(34):5377-87, 2014
                                                              3. Herwig MC et al: Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. Pediatr Dev Pathol. 14(4):322-6, 2011
                                                              4. Cuturilo G et al: Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of presumed new dysmorphic syndrome. Birth Defects Res A Clin Mol Teratol. 82(3):166-8, 2008
                                                              5. Righini A et al: Prenatal magnetic resonance imaging of optic nerve head coloboma. Prenat Diagn. 28(3):242-6, 2008
                                                              6. Sermer D et al: Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. Am J Med Genet A. 143A(24):3286-9, 2007
                                                              7. Taylor D: Developmental abnormalities of the optic nerve and chiasm. Eye. 21(10):1271-84, 2007
                                                              8. Aramaki M et al: Iridic and retinal coloboma associated with prenatal methimazole exposure. Am J Med Genet A. 139A(2):156-8, 2005
                                                              9. Lasky JB et al: PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. J AAPOS. 8(5):495-8, 2004
                                                              10. Fahnehjelm KT et al: Visually impaired children with posterior ocular malformations: pre- and neonatal data and visual functions. Acta Ophthalmol Scand. 81(4):361-72, 2003
                                                              11. Hornby SJ et al: Environmental risk factors in congenital malformations of the eye. Ann Trop Paediatr. 22(1):67-77, 2002
                                                              12. Ford B et al: Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. Am J Med Genet. 99(2):137-41, 2001
                                                              13. Sutcliffe AG et al: Eye malformations associated with treatment with carbamazepine during pregnancy. Ophthalmic Genet. 19(2):59-62, 1998
                                                              14. Stoll C et al: Congenital eye malformations in 212,479 consecutive births. Ann Genet. 40(2):122-8, 1997
                                                              15. Magli A et al: Hereditary colobomatous anomalies of the optic nerve head. Ophthalmic Paediatr Genet. 7(2):127-30, 1986
                                                              16. Warburg M: Microphthalmos and colobomata among mentally retarded individuals. Acta Ophthalmol (Copenh). 59(5):665-73, 1981