A Case of Congenital Bilateral Anophthalmia

Anophthalmia and microphthalmia are orbito-facial developmental disorders characterized by deficient growth and impaired visual capability [1]. These rare disorders may be unilateral or bilateral. Congenital anophthalmia is the complete absence of the eye [2, 3]. The prevalence of both conditions is estimated at 0.2-3 per 10,000 births [4]. We report a case of congenital bilateral anophthalmia that was undetected during follow-up but diagnosed after birth.

24-year-old Bahraini female, who is not a known case of any medical illnesses, primigravida at 39+6 weeks of gestation gave birth to a live male baby via vacuum extraction delivery due to recurrent variable decelerations and poor maternal effort. On physical examination, bilateral anophthalmia was immediately observed. No other anomalies were detected. The investigations ordered were MRI brain and orbit, which showed: Absence of bilateral eye globes-features of bilateral anophthalmia. We advised the parents the baby will need socket expansion/ conformer placement to maintain facial symmetry and cosmetic outcome with neurocognitive and development assessment every 2 months as well as speech and language evaluation.

Although many probable factors leading to anophthalmia are suggested, many cases arise idiopathically. Due to the nature of the defect, oftentimes prenatal diagnosis with routine scans is challenging. Therefore, more research into probable causes will prompt the healthcare professional to use more sensitive studies to detect the anomaly prenatally to potentially reduce the psychological and financial impact on the parents.