What Is CHARGE Syndrome?
2. Coloboma
A coloboma is a condition in which the eye does not fully close, leaving the patient with a hole in the eye structure. This will often lead to the patient having an iris that is keyhole shaped. It can also lead to abnormalities in the macula, optic nerve, and/or retina. Small eyes or eyes that are missing altogether are also possibilities.
Depending on the severity of the condition, the patient can experience significant, or even complete, loss of sight. This condition will occur in around 70-90% of all patients with CHARGE syndrome. Unfortunately, no surgery is available that can correct the condition, although spectacles may help some patients.
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