Purpose or Case Report: Congenital eye malformations are relatively rare. However, they are often associated with complex clinical syndromes that require extensive prenatal evaluation and counseling. The purpose of this study is to provide a review of various congenital ocular anomalies that can be detected on prenatal ultrasound and/or MRI in isolation or as part of a syndromic findings and to address the importance of the prenatal genetic evaluation and parental counseling.
Methods & Materials: A retrospective review of the radiology database at our institution is performed. Various congenital orbital malformations are reviewed using prenatal ultrasound and/or multiplanar fetal MRI images.
Results: Presented orbital pathologies are:
hypo/hypertelorism, micro/anophthalmia, cataract, coloboma, optic nerve hypoplasia, persistent hyperplastic primary vitreous and orbital masses with discussion on the associated clinical syndromes.
Conclusions: Early prenatal diagnosis of ocular malformations has an important role in appropriate genetic counseling and postnatal management.
The identification of orbital anomalies can help in the search for associated cerebral or systemic anomalies.