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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
- May involve any or all structures of embryonic cleft
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
- Schimmenti LA: Renal coloboma syndrome. Eur J Hum Genet. 19(12):1207-12, 2011
- Righini A et al: Prenatal magnetic resonance imaging of optic nerve head coloboma. Prenat Diagn. 28(3):242-6, 2008
- Altun E et al: Anterior coloboma with macrophthalmos and cyst: MR findings. Clin Imaging. 29(6):430-3, 2005
- Vogt G et al: A population-based case-control study of isolated ocular coloboma. Ophthalmic Epidemiol. 12(3):191-7, 2005
- Chan RT et al: Morning glory syndrome. Clin Exp Optom. 85(6):383-8, 2002
- 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
- May involve any or all structures of embryonic cleft
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
- Schimmenti LA: Renal coloboma syndrome. Eur J Hum Genet. 19(12):1207-12, 2011
- Righini A et al: Prenatal magnetic resonance imaging of optic nerve head coloboma. Prenat Diagn. 28(3):242-6, 2008
- Altun E et al: Anterior coloboma with macrophthalmos and cyst: MR findings. Clin Imaging. 29(6):430-3, 2005
- Vogt G et al: A population-based case-control study of isolated ocular coloboma. Ophthalmic Epidemiol. 12(3):191-7, 2005
- Chan RT et al: Morning glory syndrome. Clin Exp Optom. 85(6):383-8, 2002
- 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
