A case of occult bilateral optic nerve aplasia with pituitary dysfunction: hidden anomaly missed on ultrasound

Abstract

We report a case of ‘occult’ bilateral optic nerve aplasia (ONA) where pituitary dysfunction was discovered subsequently. The initial ultrasonography had missed ONA in a child with bilateral microcornea, small non-dilating pupils and roving eye movements. Due to presence of relevant clinical signs in this case, ONA was re-evaluated with MRI, and was subsequently discovered to be associated with life-endangering hypopituitarism. This case raises the possible underestimation of ONA, and hence also the risk of missing life-threatening endocrine disorders.