A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc. The name comes from the Greek word for defect. The hole is present from birth and can arise when the choroid fissure, a gap present in early prenatal development, fails to close completely before the child is born. The classical description in the medical literature is a keyhole-shaped defect. A coloboma may affect one eye or both, and most cases involve only the iris. Vision can range from unaffected to only perceiving light or dark, depending on the position and extent of the defect. Ocular coloboma is relatively uncommon, affecting fewer than one in every 10,000 births.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Coloboma (Wikipedia)
Lead paragraph 1Quote, Lead paragraph 1
is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc
View the Source 2. World Health Organization ICD-10: ICD-10 Version:2019 - Q10-Q18
World Health Organization ICD-10ICD-10 2019 category Q12.2Quote, ICD-10 2019 category Q12.2
Q12.2 Coloboma of lens
View the Source 3. MedlinePlus Genetics (National Library of Medicine): Coloboma - MedlinePlus Genetics
MedlinePlus Genetics (National Library of Medicine)CausesQuote, Causes
Most genetic changes associated with coloboma have been identified only in very small numbers of affected individuals.
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