Hereditary Occurrence of Deep Excavations of the Optic Nerve with Best´s RetinalDystrophy

Overview

The authors present a pedigree where in three generations in male members deepexcavations of the optic discs along with Best´s disease of the centres in a variableform were recorded.The heredity is autosomal dominant. Retinal changes conditioned by defects ofthe pigmented epithelium reduce vision to a maximum of 6/60. The anomaly isassociated with a pathological EOG record and normal ERG response. The obser-vation is a contribution to discussions in the literature about the hereditarycharacter of excavations of the optic nerve.

Key words:
deep excavations of the optic disc, Best´s dystrophy, heredity