Malformations of the eye and orbit

The eye forms directly from the embryonic neural tube starting from the fourth week of gestation, under the regulation of several genes and proteins [1]. Malformation of the eye therefore may be isolated, accompany other complex malformations of the nervous system, or may be a part of multisystem developmental abnormalities, due to genetic, environmental, or both genetic and environmental factors. Numerous ocular and orbital anomalies can be recognized and diagnosed on clinical evaluation, but radiologic assessment is often crucial for the differential diagnosis, for the definition of the prognosis and for treatment planning. Moreover, the evaluation of the eye and orbit is a reasonable expectation as part of a detailed fetal US or MRI scan, particularly in the setting of suspected CNS malformations, so that some developmental abnormalities can be recognized also from midgestation onward [2].