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

PURPOSE: To document progressive optic nerve cupping and neural rim decrease in a patient with normal intraocular pressures and bilateral autosomal dominant optic nerve colobomas. METHODS: 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). RESULTS: 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. CONCLUSIONS: 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. (Am J Ophthalmol 2000;129:517-520. (C) 2000 by Elsevier Science Inc. All rights reserved.).