Autosomal dominantly inherited optic nerve coloboma

Abstract

Four members of three consecutive generations of a family had congenital anomalies of the optic disk: deep excavation of the optic disk containing a mass of white glial tissue at its center, anomalous retinal vessels emerging from the peripheral aspect of the disk, and elevated annulus of peripapillary pigmentary disturbance. These optic disk anomalies occurred bilaterally with some inter- and intra-individual variable expressivity. Five of the eight affected eyes had profound visual loss, but three eyes showed normal vision. Two cases developed unilateral nonrhegmatogenous retinal detachment. There were no other ocular or systemic malformations. This family illustrates an instance of autosomal dominantly inherited optic nerve coloboma.