Coloboms, also known as coloboma, is a term used in medical and anatomical contexts referring to a congenital malformation or deformity that involves an abnormality or absence of tissue in a particular part of the body. However, the term coloboms is most commonly used to describe a specific disorder known as ocular coloboma, which affects the eye.
In ocular coloboma, a segment of the eye fails to develop fully during gestation, resulting in a distinctive abnormality. This can occur in various parts of the eye, such as the iris, lens, choroid, or optic nerve. The specific location and severity of the coloboma within the eye can vary greatly, leading to varying degrees of visual impairment.
Individuals with ocular coloboma often exhibit a characteristic keyhole or key-shaped pupil, due to the absence or misshaping of the iris. Depending on the extent of the malformation, other ocular abnormalities such as cataracts, glaucoma, or vision loss may also be present.
Coloboms can occur as isolated occurrences or in association with other genetic or syndromic conditions. It is often diagnosed at birth or during early childhood through a comprehensive eye examination and may require ongoing management and treatment by an ophthalmologist.
While ocular coloboma is the most common form of coloboms, the term can also refer to similar malformations affecting other body parts, such as a coloboma of the ear or coloboma of the heart. These conditions may involve missing or malformed tissue in the respective organ, leading to specific functional or structural issues.
