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Coloboma
Pediatric Ophthalmology
Key Points
- •Coloboma results from incomplete closure of the embryonic fissure during weeks 5–7 of gestation - always located inferonasal (typical coloboma)
- •CHARGE syndrome is the most important systemic association (80–90% have coloboma) - always screen for cardiac, choanal, renal, ear anomalies
- •Visual prognosis depends on the structures involved: iris only = good; macular involvement (Grade IV) = poor (>20/200)
- •Retinal detachment at the coloboma margin is the most important ocular complication (~4–8% lifetime risk) - requires regular dilated fundus surveillance
- •~40% of coloboma patients have associated systemic anomalies - comprehensive systemic workup (echo, renal US, audiometry, genetics) is MANDATORY
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17 more sections are included with the Clinical plan.
- Definition
- Epidemiology
- Aetiology and causes
- Pathogenesis
- Classification
- Risk factors and associations