What is choroidal coloboma?
Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms.
What is coloboma associated with?
Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma.
Is coloboma recessive or dominant?
Isolated coloboma is sometimes inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Isolated coloboma can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations.
Are you born with coloboma?
Coloboma is an eye condition that people are born with. It happens when part of the tissue that makes up the eye is missing. It can affect 1 or both eyes.
Can coloboma develop after birth?
Coloboma can affect one eye (unilateral) or both eyes (bilateral) and it can affect different parts of the eye. As coloboma forms during the initial development of the eye, it is present from birth and into adulthood.
How do you describe coloboma?
A coloboma is a defect in the iris of the eye. It can appear as a black notch of varying depth at the edge of the pupil, giving the pupil an irregular shape. Coloboma may be associated with hereditary conditions, trauma to the eye, or eye surgery.
Is coloboma genetic?
Coloboma happens when a baby’s eye doesn’t develop normally during pregnancy because of abnormal or changed genes that affect eye development. Coloboma sometimes runs in families. Environmental factors, such as drinking alcohol during pregnancy, may also increase a baby’s risk for coloboma.
What is choroidal tubercle?
Background. A choroidal mass or granuloma is a feature of ocular tuberculosis (TB). Tubercles can arise in the early stages of progression of TB and indicate hematogenous dissemination before the development of symptomatic disease.
What is retinochoroidal coloboma?
Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms.
What is a chorio-retinal coloboma?
Chorio-retinal coloboma. In this coloboma, part of the retina is missing. The symptoms of a coloboma depend on where it occurs. A coloboma of the iris will be visibly noticeable due to the keyhole or cat-eye appearance of the pupil.
What are the different types of coloboma?
What are the different types of coloboma? 1 Eyelid coloboma. In eyelid coloboma, a piece of either the upper or lower eyelid is absent. Eyelid coloboma may be part of a genetic syndrome or 2 Lens coloboma. 3 Macular coloboma. 4 Optic nerve coloboma. 5 Uveal coloboma.
What causes coloboma of the iris and choroid?
Colobomas of the iris or ciliary body result from failures of complete anterior closure, while colobomas of the choroid, retina or optic nerve result rom failures of posterior closure. Coloboma of the lens is due to defective or absent development of the zonules in any segment.
