Congenital abnormalities of the optic nerve: from gene mutation to clinical expression.

Abstract excerpt

Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies,...

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