Optic nerve colobomas of autosomal-dominant heredity
J. Savell and J. R. Cook
Fifteen members of a family had congenital colobomas of the optic nerves,
all of which were bilateral. The bolobomas appeared as enlargement of the
physiologic cup with severely affected eyes having huge cavities in the
site of the disc. A variable amount of glial tissue was present within the
colobomas. Either macular or extramacular serous detachment or sequelae
were present in 21 of the 30 affected eyes, and often led to total
blindness. Radioisotope cisternography in one patient failed to implicate
cerebrospinal fluid as the source of the subretinal fluid. The disorder is
apparently inherited as an autosomal dominant.
