Isolated presentation of congenital microphthalmia on fetal MRI

Abstract

A fetal growth scan was performed on a 34-year-old Caucasian woman, G4P3, with a history of gestational diabetes diagnosed at 32 weeks gestation. The examination revealed an absence of normal left globe with an echogenic mass in its expected location with a rim of surrounding hypoechoic fluid. The right orbit and globe were normal, and no other structural anomalies were identified. Prior to this examination, the patient had a normal anatomic survey and fetal echocardiogram at 20 weeks, however due to fetal positioning there was limited visualization of the orbits on initial scan. Fetal MRI was performed at 36 weeks gestation and confirmed near-complete absence of the left globe with asymmetrically smaller size of the left orbit. Normal right orbit and globe were present, and no additional fetal structural abnormalities were observed. Figure 1 congenital microphthalmia was diagnosed based on the imaging findings, preparing the family and alerting the medical team of appropriate care needed postnatally.