Clinical spectrum of orbital and ocular abnormalities on fetal MRI

Fetal magnetic resonance imaging (MRI) may reveal sonographically occult ocular abnormalities. When discovered, acquired causes and genetic associations must be sought.

We aim to evaluate a fetal cohort with orbit and/or globe malformations to determine whether there are imaging patterns that suggest the underlying cause.

We searched all fetal MRI reports performed at an academic children's hospital over 9 consecutive years for orbit and/or globe abnormalities. Each positive exam and all follow-up MRIs were evaluated for interocular distance, globe size, shape and signal, and brain malformations. Genetic and clinical diagnoses were recorded from the medical record.

Seventy-six of 3,085 fetuses (2.5%) were diagnosed with ocular and/or globe abnormalities; 50% had postnatal follow-up MR exams, all confirming the fetal MRI findings. Ninety-two percent (70/76) had concurrent brain malformations. Sixty-seven percent (51/76) were diagnosed with an underlying disorder and 39% of these were genetically proven. The most common diagnoses with ocular globe abnormalities included CHARGE (coloboma of the eye, heart anomaly, choanal atresia, retardation and genital and ear anomalies) syndrome, trisomy 13 syndrome, dystroglycanopathy, holoprosencephaly and diencephalic-mesencephalic junction dysplasia. Genetic diagnoses were more likely with ocular globe abnormalities than isolated orbital abnormalities (P=0.04). Sixty-seven percent of fetuses with ocular calcifications, hemorrhage and/or lens abnormalities had potential maternal risk factors (P=0.03).

Malformed ocular globes are associated with brain malformations and genetic abnormalities. Ocular calcifications, hemorrhage and/or lens abnormalities may be associated with maternal risk factors. Genetic work-up should be considered when an ocular globe size or shape abnormality is detected.