Fact-sheet: Coloboma


Updated on 09/17/2021 at 12:16 PM

Note : 0/10

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Definition

Congenital developmental anomaly of the lens, iris, choroid, or retina secondary to a defect in the fusion of the embryonic optic fissure.

Clinical features

Variable decrease in visual acuity
Possible CHARGE Syndrome (genetic disease):
- Coloboma
- Heart defect
- Atresia choanae
- Retarded growth or development
- Genital hypoplasia
- Ear anomalies (absence of semicircular canals)