This 29YO male presented with bilateral optic disc drusen (ODD). Vision was 20/40 OD and 20/30 OS. The drusen are markedly hyper-autofluorescent. The retinal nerve fiber layer is variably thickened and thinned. Humphrey visual fields show scattered defects OD with a full field OS. Observation was recommended.
Learning Points:
Optic disc drusen (ODD) are refractile calcific concretions that form anterior to the lamina cribrosa. They are thought to be extruded, extracellular, calcified mitochondria and may be inherited as an autosomal dominant trait.
Porphyrins, organic molecules composed of four interconnected pyrrole subunits, are present within mitochondria. When these compounds break down, they become autofluorescent, which is likely why drusen autofluoresce. Porphyrins are also part of the heme molecule in hemoglobin, accounting for why devitalized blood also autofluoresces (Bloom and Spaide, Retinal Cases 2022;16:401-402).
