Since its first description optic nerve hypoplasia has been identified with increasing frequency, and a range of associated problems have been described. The major neurological and endocrine associations are well established, but those factors that predispose to the development of optic nerve hypoplasia remain unclear. To understand the aetiology of these problems better, and to formulate a management regime, we studied a consecutive series of 40 patients who were divided into three groups. Group 1 (n = 24) had severe bilateral optic nerve hypoplasia; group 2 (n = 10) had mild, bilateral optic nerve hypoplasia; and group 3 (n = 6) had unilateral optic nerve hypoplasia. Previously described aetiological factors (for example, low maternal age or maternal alcohol or drug ingestion) were not present in any of the groups; this removes the need to screen a specific population. It is important that careful neurological and developmental assessments are carried out in children with optic nerve hypoplasia to identify potential disease. The role of imaging is discussed.
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