The genetic implications of optic disc anomalies

Abstract

Congenital anomalies of the optic disc may be inherited, such as drusen, the tumours of Von Hippel-Lindau disease, the phakomata in tuberous sclerosis and colobomata which may be dominant, autosomal recessive or x-linked recessive. Colobomata may be a sign of chromosomal disease, often with severe systemic implications, but it is just as important that some anomalies have no genetic implications, for instance optic disc hypoplasia, Aicardi's syndrome, the Morning Glory syndrome, myelinated nerve fibres, many vascular anomalies and all glial anomalies.