What is it?

Coloboma is a congenital defect in which there is missing eye tissue in the eye’s structures. It could involve the retina, iris, choroid or the optic nerves. Colobomas are either unilateral or bilateral, and may affect vision, depending on its location and size. It could be as part of other eye defects such as cataract, glaucoma and microphthalmia, or as part of a syndrome affecting other body organs. Coloboma may be caused by a genetic mutation, chromosomal abnormalities and environmental factors such as maternal alcohol consumption during pregnancy.

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Additional names

This group contains additional names:
- Anomalies of Corneal Size and Shape
- Anterior Segment Coloboma and Anomalies
- Congenital Corneal Opacities Affecting Vision
- Anomalies of Sclera
- Anomalies of Iris and Ciliary Body
- Aniridia

Signs & symptoms

Coloboma symptoms may include keyhole appearance of the pupil, vision loss in specific visual fields, low vision which cannot be fully corrected by glasses, eyes could be smaller than usual. Other eye conditions including increased pressure inside the eye, nearsightedness, involuntary eye movement or retinal detachments may also appear.


Coloboma diagnosis is done during an ophthalmologist examination. To understand the cause for coloboma, further tests may be done including genetic testing.


There is no cure for coloboma, and there is no surgery that can fix the problem. Treatment focuses on helping the patients adjust to vision problems.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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