Fourteen children with optic nerve hypoplasia associated with either mid-brain abnormalities or pituitary dysfunction, or both, are described. All patients were either partially sighted or blind. One case is reported in detail. The importance of hypoglycaemia in the neonatal period and later in childhood is emphasised in relation to diagnosis and developmental delay. Pituitary dysfunction is variable and may be progressive. Forty percent of the patients had a septum pellucidum and its presence or absence cannot be used as a radiological marker for the condition. Long term endocrine follow up of these patients is required.
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