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Pediatr Endocrinol Rev. 2008 Mar;5(3):772-7.

Optic nerve hypoplasia and hypopituitarism.

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  • 1Division of Pediatric Endocrinology, Diabetes, and Metabolism, Department of Pediatrics, USC Keck School of Medicine and Childrens Hospital Los Angeles, CA, USA.


Optic nerve hypoplasia (ONH) has a wide clinical spectrum. When it is associated with absence of the septum pellucidum, it has been termed septo-optic dysplasia. Over the past 50 years, much has been learned about ONH and its association with pituitary endocrinopathies. Causative factors have been sought that may disrupt development of the optic nerve and the hypothalamic-pituitary axis simultaneously. The endocrinological aspects of ONH require lifelong monitoring and replacement of pituitary hormones when necessary. Children with ONH are also at greater risk for structural abnormalities of the brain, and abnormalities in certain structures are positively correlated with increased risk for pituitary deficiencies. However, it has also been shown that children with ONH and "normal" head imaging can still manifest endocrinopathies. Subsequently, a long-term multidisciplinary approach, involving pediatric specialists in ophthalmology, endocrinology, neurology, and behavioral therapy, is critical to optimize growth and development of all children with ONH.

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