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Bilateral anophthalmia

Case contributed by Servet Kahveci
Diagnosis certain

Presentation

Routine obstetric ultrasound.

Patient Data

Age: Second trimester
Gender: Male

Antenatal US: selected 3D...

ultrasound

Antenatal US: selected 3D reconstruction images

3D ultrasound images showing anophthalmia. The convexity of the globes (bulbus oculi) is absent.

Annotated image

3D ultrasound images showing anophthalmia. Black arrow demonstrates absence of the globes (bulbus oculi). 

Case Discussion

Primary anophthalmia is a rare malformation which refers to the absence of the globes (bulbus oculi). Anophthalmia may occur in isolation or as a part of a syndrome. Although standard 2D ultrasound is usually sufficient for prenatal diagnosis, 3D and 4D ultrasound do provide more accurate images of the eyes during pregnancy. In turn, they may be considered in combination with standard ultrasonography for such cases.

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