Surjith Vattoth, MD, FRCR; 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 = ODC
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 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
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
Ponnatapura J: Morning glory syndrome with Moyamoya disease: a rare association with role of imaging. Indian J Radiol Imaging. 28(2):165-8, 2018
Dar SA et al: Prenatal diagnosis of colobomatous microphthalmos. J Pediatr Ophthalmol Strabismus. 52 Online:e22-5, 2015
Williamson KA et al: The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 57(8):369-80, 2014
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
Hornby SJ et al: Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma. Ophthalmic Epidemiol. 7(2):127-38, 2000
Hornby SJ et al: Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology. 107(3):511-20, 2000
Onwochei BC et al: Ocular colobomata. Surv Ophthalmol. 45:175-94, 2000
Gottlieb JL et al: Peripapillary staphyloma. Am J Ophthalmol. 124(2):249-51, 1997
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
Abbreviations
Optic disc coloboma (ODC)
Choroidoretinal coloboma (CRC)
Synonyms
Optic nerve coloboma = ODC
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 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
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
Ponnatapura J: Morning glory syndrome with Moyamoya disease: a rare association with role of imaging. Indian J Radiol Imaging. 28(2):165-8, 2018
Dar SA et al: Prenatal diagnosis of colobomatous microphthalmos. J Pediatr Ophthalmol Strabismus. 52 Online:e22-5, 2015
Williamson KA et al: The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 57(8):369-80, 2014
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
Hornby SJ et al: Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma. Ophthalmic Epidemiol. 7(2):127-38, 2000
Hornby SJ et al: Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology. 107(3):511-20, 2000
Onwochei BC et al: Ocular colobomata. Surv Ophthalmol. 45:175-94, 2000
Gottlieb JL et al: Peripapillary staphyloma. Am J Ophthalmol. 124(2):249-51, 1997
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
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