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Anophthalmia is absence of 1 or both eyes.

The diagnosis of anophthalmia is usually made by a pediatrician or a pediatric ophthalmologist during an external examination of the ocular structures shortly after birth. The examining physician will open the eyelids to check for presence of eye tissue. If unilateral (one eye is involved), a thorough dilated eye exam should be performed on the other eye to determine if there are any other eye malformations that might lead to reduced vision. The first test to be done is often an ultrasound of the orbits. Usually an MRI of the orbits is also necessary to make an accurate diagnosis.