Progressive optic nerve cupping and neural rim decrease in a patient with bilateral autosomal dominant optic nerve...

To document progressive optic nerve cupping and neural rim decrease in a patient with normal intraocular pressures and bilateral autosomal dominant optic nerve colobomas.

The ophthalmology records, stereoscopic fundus photographs, and visual fields of a 27-year-old woman with familial (autosomal dominant) optic nerve colobomas were reviewed. The appearance of the optic nerves was documented over a 13-year period (1985 to 1998).

Despite repeatedly normal intraocular pressures, the patient showed progressive optic nerve cupping and neural rim decrease in both eyes. Visual field testing was available over a 5-year period (1993 to 1998) and was abnormal, but no progression was seen.

This case of progressive cupping and neural rim decrease in a patient with autosomal dominant optic nerve coloboma in both eyes may provide insight into the optic nerve cupping associated with normal tension glaucoma. Careful follow-up of patients with optic disk colobomas or patients is indicated to detect possible optic nerve changes or field loss.