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Certain features of optic nerve hypoplasia (ONH), its systemic associations and investigation are exclusive to infancy. These include the facility to use cranial ultrasound, difficulties in assessing ocular features and visual function, and neonatal hypoglycaemia and jaundice. Six infants with ONH are presented; cerebral abnormalities were demonstrated by cranial ultrasound in five. Neonatal cholestatic jaundice and hypoglycaemia occurred in one infant. Two died and represent a group likely to remain undetected unless routine ophthalmic examination of neurologically abnormal neonates is undertaken. In infancy, both ocular and systemic aspects of ONH can be investigated simply and without sedation.