Bilateral Anophthalmia Associated With Ventricular Septal Defect, Atrial Septal Defect, and Patent Ductus Arteriosus: A Rare Neonatal Case Report.

Abstract

Background: Anophthalmia is a rare congenital ocular malformation characterized by the complete absence of the eye and its associated ocular structures. Bilateral anophthalmia is particularly uncommon and is frequently associated with multisystem congenital anomalies. Congenital heart disease represents one of the most commonly reported systemic associations; therefore, all infants diagnosed with bilateral anophthalmia should undergo comprehensive systemic evaluation, including detailed cardiovascular assessment. However, the coexistence of bilateral anophthalmia with multiple congenital cardiac defects remains uncommon, with only a limited number of cases reported in the literature.

Case presentation: We report the case of a 3-day-old full-term Somali male neonate, born in a resource-limited rural setting, who presented with the complete bilateral absence of the ocular globes, which was identified immediately after birth. Ophthalmologic examination confirmed bilateral congenital anophthalmia. During hospitalization, the infant developed clinical features of hemodynamically significant left-to-right shunt physiology, including tachypnea during feeding, feeding difficulties, easy fatigability, and diaphoresis. Brain magnetic resonance imaging confirmed complete bilateral anophthalmia without associated intracranial abnormalities. Transthoracic echocardiography demonstrated multiple congenital cardiac defects, including a 4-mm muscular ventricular septal defect, a 4-mm secundum atrial septal defect associated with an atrial septal aneurysm, and a 3-mm patent ductus arteriosus with restrictive left-to-right shunting. Owing to the hemodynamic significance of these lesions and the lack of advanced pediatric cardiac surgical services locally, the patient was stabilized and referred abroad for definitive surgical management.

Conclusion: This case underscores the rarity of bilateral congenital anophthalmia associated with multiple congenital cardiac anomalies and highlights the critical need for thorough systemic evaluation of neonates with major congenital malformations. Early multidisciplinary involvement and timely referral to specialized centers are essential, particularly in resource-limited settings where diagnostic and therapeutic options are constrained.