DISEASES

Disease-gene associations mined from literature

Human genes for coloboma

Coloboma [DOID:12270]

A coloboma (from the Greek koloboma, meaning defect, and also part of the rare Cat eye syndrome) is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure between two structures in the eye, which is present during early stages of prenatal development, fails to close up completely before a child is born. The classical description in medical literature is of a key-hole shaped defect. A coloboma can occur in one or both eyes.

Synonyms:  coloboma,  DOID:12270,  Coloboma of eye (disorder),  Congenital ocular coloboma (disorder),  Coloboma of eye disorder ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8