They can also be severe enough that half of the upper eyelid is missing. Results can be minor, where the lower eyelid appears uneven or droopy, as if melted, or where the edges of the eyelids look incomplete. Eyelid colobomaĮyelid coloboma refers to missing or incomplete eyelid tissue, which happens when the skin folds of the eyelid fail to fuse together. ![]() For example, a child may be born with eyelid coloboma and retinal coloboma. It is common for multiple coloboma types to be present in conjunction with one another. SEE RELATED: Your infant’s vision development: What to know Types of eye colobomasĬolobomas can affect several parts of the eye, including the eyelid, iris (colored part of the eye), retina, optic nerve, lens and macula. Typically, infants with Fetal Alcohol Syndrome also exhibit other symptoms of the condition, such as low birth weight, deformed joints, limbs or fingers, and hearing difficulties. Research shows coloboma as a “ key malformation” seen in infants with Fetal Alcohol Syndrome. It’s also possible that environmental conditions and maternal health play a part in the development of coloboma, specifically when alcohol is consumed during pregnancy. However, the specific genes involved in coloboma are still unknown. It is believed that genetic defects or chromosomal abnormalities are the most likely cause.įor instance, colobomas are often seen in cases of CHARGE syndrome, which is known to affect gene CHD7. This condition can be inherited or happen spontaneously and can affect one or both eyes. The location of these gaps in the fissure determines where the colobomas are located. If the choroidal fissure fails to close by the end of week seven, a gap or coloboma is left. Typically, this connection occurs between week five and week seven of pregnancy. During this time, a seam known as a choroidal fissure (also called the optic fissure or embryonic fissure) connects and secures to form the structure of the eye. ![]() People with coloboma eyes are born with certain tissues missing, leaving gaps or notches in part of the eye’s structure.Ī fetus’ eyes form and develop throughout the first three months of pregnancy. Coloboma definitionĬoloboma is derived from the Greek word for “curtail” or reduce. The condition is present at birth and is caused by abnormal development during gestation. Coloboma (pronounced "kah-luh-BOW-muh") is a condition characterized by missing tissues in and around the eye.
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