Coloboma is a medical condition in which normal tissue in or around the eye is missing from birth. It is believed that uveal coloboma is primarily genetic in origin. Sometimes coloboma is part of a specific genetic syndrome, for which the genetics are known. For instance, coloboma is one feature of CHARGE syndrome, which is associated with a change in, or a complete deletion of a gene called CHD7.
Some of the studies suggest that certain environmental factors may contribute to developing coloboma. For example, it is known that babies exposed to alcohol during pregnancy can develop coloboma - but they also have other anomalies. There are no known strong links between environmental exposures and isolated coloboma.
There may or may not be any symptoms related to coloboma. The symptoms of coloboma depend on the amount and location of the missing tissue. People with a coloboma affecting the macula and the optic nerve will likely have reduced vision. People with a coloboma affecting any part of the retina will have what is called a field defect. Some patients have reported being more sensitive to light.
Patients with uveal coloboma should have yearly follow-up exams by an eye care professional. However, there is no medication or treatment option that can cure or reverse coloboma and make the eye whole again. Treatment consists of helping patients adjust to vision problems and make the most of the vision they have.
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