Optic disc drusen: Recent developments on a slow-moving condition

Abstract:

Optic disc drusen (ODD) are benign acellular calcified deposits that typically form early in life. They do not normally cause symptoms, so ODD are often detected incidentally as an abnormal or potentially swollen optic disc appearance. Distinguishing ODD from true optic disc edema is essential, and now, multimodal imaging, particularly enhanced-depth imaging optical coherence tomography, can detect ODD accurately and reduce the need for further investigations. The origins of ODD are unknown, although the potentially unique finding of heavily calcified extracellular mitochondria in the optic disc raises hypotheses about local astrocyte clearance of dysfunctional mitochondria. Strong familial clustering suggests dominant or polygenic inheritance, and yet the most interesting candidate gene association is the recessive ABCC6 . These emerging genetic associations both illuminate the pathogenesis and raise potential therapeutic targets for ODD. This narrative review synthesizes current knowledge on diagnosis, epidemiology, pathogenesis, genetic associations, and emerging therapeutic approaches, aiming to support clinicians in the diagnosis and management of ODD, and also highlights directions for future research.