Selected malformations of the optic nerve head - morphology etiology and associations

ABSTRACT

Although individually rare, congenital malformations of the optic nerve head can be associated with significant visual morbidity, other ocular malformations, and systemic disorders, some of which life-threatening. This paper reviews the clinical features that allow the differentiation of typical colobomas of the optic nerve head from the morning glory disk anomaly. The former can be inherited and are associated with a variety of systemic syndromes and malformations; the latter are not inherited and are associated notoriously with basal encephaloceles and with Moyamoya disease of the carotid vascular system. Finally, the papillo-renal syndrome and the PHACE syndrome are briefly reviewed and their associated optic nerve malformations delineated