Overview

Optic nerve head drusen are calcified deposits located anterior to the lamina cribosa. They are thought to occur by a combination of factors including a disturbance of metabolism in the axons, abnormal vasculature and a small scleral canal.

The clinical appearance varies depending on the depth of the deposits as they may initially be buried within the nerve but migrate slowly towards the surface of the optic nerve and become superficial. The diagnosis is relatively straightforward when the disc drusen are superficial (approximately 60% of cases), however buried disc drusen can create an elevated optic disc appearance and mimic disc swelling (pseudopapilloedema).

Patients with optic nerve head drusen are usually asymptomatic although symptoms of transient visual obscurations can occur. In contrast, true papilloedema may be associated with numerous symptoms including but not limited to nausea, vomiting, headaches, diplopia, tinnitis and transient vision loss.

Superficial disc drusen appear as round, refractile deposits on the surface of the optic nerve. They may vary in size and often appear in clusters. Fundus autofluorescence imaging shows hyper-autofluoresescence of the drusen, and is a key diagnostic test for this condition. Buried disc drusen may not be easily visualised on fundus examination or fundus autofluorescence and in these cases, a B-scan ultrasound is useful as the calcific component of the drusen causes them to appear hyper-echoic when imaged.

On OCT imaging, drusen appear as hyporeflective bodies with hyperreflective margins. Enhanced depth imaging (EDI) is useful to improve visualisation of buried drusen. However, in cases where the drusen is deeply buried, they may not be visible on OCT.

Optic nerve head drusen can cause compression and damage to the retinal nerve fibres with RNFL thinning seen on OCT. Associated visual field defects can also occur and may be variable depending on the location of the drusen and area of RNFL damage. Visual field defects include arcuate defects, enlarged blindspots, nasal steps and peripheral constriction.

Case Examples

Differential diagnosis

References

Arturo Carta, Stefania Favilla, Marco Prato, Stefania Bianchi-Marzoli, Alfredo A. Sadun, Paolo Mora; Accuracy of Funduscopy to Identify True Edema versus Pseudoedema of the Optic Disc. Invest. Ophthalmol. Vis. Sci. 2012;53(1):1-6.

Chiang, J., Wong, E., Whatham, A., Hennessy, M., Kalloniatis, M. and Zangerl, B. (2015), Differentiating optic nerve head swelling. Clin Exp Optom, 98: 12-24

Palmer, E., Gale, J., Crowston, J. G., & Wells, A. P. (2018). Optic Nerve Head Drusen: An Update. Neuro-ophthalmology (Aeolus Press), 42(6), 367–384.