Angioid streaks and optic nerve head drusen in hyperphosphatemic familial tumoral calcinosis.

Abstract

To describe a patient with angioid streaks and optic nerve head drusen associated with familial tumoral calcinosis (FTC). Retrospective, observational case report. The patient's records were reviewed. After receiving blunt trauma to the head, the patient presented with loss of vision in the left eye. Fundus examination revealed bilateral angioid streaks, optic nerve head drusen, and choroidal ruptures associated with subretinal hemorrhages. Subsequent physical, laboratory, and radiologic examinations revealed periarticular calcification, elevated serum phosphate levels, and normal calcium levels, consistent with FTC. FTC should be considered in the differential diagnosis for patients presenting with angioid streaks and optic nerve head drusen.