Anophthalmia

and microphthalmia can either be diagnosed during pregnancy or after birth. During pregnancy, doctors can often identify anophthalmia and microphthalmia through an ultrasound or a CT scan (special x-ray test) and sometimes with certain genetic testing.

When is microphthalmia diagnosed?

Microphthalmia is diagnosed soon after birth when parents and the pediatrician notice an abnormally small eye or eyes. Eye measurements can be taken to confirm the diagnosis.

Can microphthalmia be seen on ultrasound?

Microphthalmia can be seen on a spectrum of eye malformations known as the MAC Spectrum, with rare incidence of disease. Although ultrasound can make the initial diagnosis, fetal MRI is helpful in further evaluation and exclusion of additional potential abnormalities which may be seen in association with this entity.