Bilateral optic nerve aplasia in an infant with multiple congenital anomalies: A comprehensive case study and literature review

Optic nerve aplasia (ONA) is a rare ocular developmental anomaly. This condition may affect either one or both eyes of the patient and is characterized by the congenital absence of the optic nerve, retinal nerve fiber layer, and ganglion cell layer. Bilateral ONA, which is more uncommon, is frequently associated with central nervous system (CNS) anomalies. In this study, we report bilateral ONA in a boy with multiple congenital CNS, cardiac, genitourinary, and musculoskeletal system anomalies. Brain magnetic resonance imaging (MRI) and ocular sonography confirmed the diagnosis. However, the endocrinologic evaluation showed no evidence of pituitary dysfunction. Bilateral ONA is a highly uncommon condition. Various imaging techniques can be used to diagnose ONA, with brain MRI being particularly valuable. It is important to conduct a comprehensive systemic assessment of these children to check for any associated life-threatening conditions, like panhypopituitarism.