There are many different developmental abnormalities of the globe but most of these are fortunately rare. Coloboma refers to a failure of fusion of the foetal cleft of the optic cup in the embryo. Coloboma of the iris is seen as a keyhole-shaped pupil and the defect can extend into the choroid, so that the vision might be impaired. Inspection of the fundus reveals an oval white area extending inferiorly from the optic disc. Children can be born without an eye (anophthalmos) or with an abnormally small eye (microphthalmos). It is always important to find out the full extent of this type of abnormality and if the mother has noticed something amiss in the child's eye, referral to a paediatric ophthalmologist is required without delay. Often a careful discussion of the prognosis with both parents is needed.
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