A Rare case of Congenital Bilateral Anophthalmia in Irrua: A Case Report

Abstract

Introduction: Anophthalmia is a rare congenital malformation characterized by absence of the eye globes which may either be unilateral or bilateral. It may also occur in isolation or in association with other Congenital anomalies.
Although, its diagnosis can be made clinically, imaging can play a crucial role in confirming this condition and also screen for associated anomalies.
Objectives: To report a case of congenital bilateral anophthalmia in a one week old neonate.
To also highlight the role of diagnostic imaging, and in particular ultrasonography in evaluating a patient with anophthalmia.
To describe the notable ultrasound findings and review relevant existing literature on this rare condition.

Case Report: The case of a one week old female neonate who was delivered at term by a Para-3 middle aged petty trader in a private medical facility and referred by the attendant physician for imaging at Irrua Specialist Teaching Hospital, after being suspicious of an ocular malformation due to persistent closure of the neonate’s eye lids is reported and the findings on sonography are also described. Sonography revealed bilateral absence of the eye globes with hypoplasia of the orbital cavity. No other anomaly was demonstrable.

Conclusion: Anophthalmia is a rare Congenital ocular malformation. The role of imaging is crucial. Particularly in resource poor settings where advanced imaging modalities like magnetic resonance imaging are unavailable, ultrasonography can be used for confirmation of the anomaly and also to screen for associations.