Progression from Anomalous Optic Discs to Visible Optic Disc Drusen

Abstract

At age 5, a patient underwent fundus photography that disclosed elevated optic discs without drusen. A head computed tomography did not show optic nerve calcification. At age 9, no disc drusen were evident by ophthalmoscopy, but a CT now showed optic nerve calcification. At age 12, optic disc drusen were faintly evident on photographs; visual fields showed blind spot enlargement OD and an arcuate defect OS. At age 21, he had numerous discrete disc drusen in both eyes, disc pallor, and slight progression of the visual field defects. This case documents the progression from anomalous optic discs to ophthalmoscopically visible optic nerve drusen over a 16-year period.

Optic Nerve Head Drusen and Visual Field Loss in Normotensive and Hypertensive Eyes

“…They are often buried within the substance of the optic nerve head in children, but become exposed on the disc surface with aging, 6,8,9 owing to enlargement by continuous calcium apposition. 10 ONHD are often associated with visual field defects.…”

Optic Disc Drusen in a Child Diagnosed with Alport Syndrome—Case Report

“…The only sign in some cases is a mild or moderate elevation of the optic disc that may represent true papilloedema or pseudopapilloedema [6] [13]. A case involving elevated optic disc identified at 5 years of age that developed faint signs of drusen at 12 years had been documented [9]; with progression from anomalous optic discs to ophthalmoscopically visible optic nerve drusen occurring over a 16-year period. In the case described here, a unilateral elevated optic disc was noted as early as three years of age, but the diagnosis of bilateral drusen was confirmed at nine years of age, following series of eye examinations and 2 MRI scans.…”

“…To the best of our knowledge this is not an eye abnormality known to be associated with Alport syndrome. Optic disc drusen is not an uncommon eye problem [8], and though difficult to diagnose in childhood, towards end of adolescence it becomes more easily identifiable with one of the clinical presentations being visual field loss [9].…”

Distinguishing optic disc drusen from papilloedema

“…They are initially buried beneath the surface of the optic disc and produce disc elevation. 16 From about age 12, the drusen become exposed at the surface of the disc. 17 As optic disc drusen might be inherited, it may be useful to examine both parents for exposed drusen when buried drusen are suspected in a child.…”