Optic disk drusen in children

Abstract

Optic disc drusen occur in 0.4% of children and consist of acellular intracellular and extracellular deposits that often become calcified over time. They are typically buried early in life and generally become superficial, and therefore visible, later in childhood, at the average age of 12 years. Their main clinical significance lies in the ability of optic disc drusen, particularly when buried, to simulate true optic disc edema. Misdiagnosing drusen as true disc edema may lead to an invasive and unnecessary workup for elevated intracranial pressure. Ancillary testing, including ultrasonography, fluorescein angiography, fundus autofluorescence, and optical coherence tomography, may aid in the correct diagnosis of optic disc drusen. Complications of optic disc drusen in children include visual field defects, hemorrhages, choroidal neovascular membrane, non-arteritic anterior ischemic optic neuropathy, and retinal vascular occlusions. Treatment options for these complications include ocular hypotensive agents for visual field defects and intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents for choroidal neovascular membranes. In most cases, however, children with optic disc drusen can be managed by observation with serial examinations and visual field testing, once true optic disc edema has been excluded.

Optic disc drusen: understanding an old problem from a new perspective

“…Six of eight patients had what were described as 'severe structural changes' of the optic nerve head, and in most cases, anatomical optic disc changes secondary to ODD were established at the first clinical visit these patients had as teenagers (Malmqvist et al 2016b). The study observations by Malmqvist and colleagues likely account for the fact that the average age at which visual field defects are detected in children with ODD is 14 years (Chang & Pineles 2016). Accordingly, this transition phase may be the time during which visual field defects are most likely to progress (Malmqvist et al 2016b).…”

“…Certainly, visual field defects are common in ODD, having been described in 51% of children (Chang & Pineles 2016), 75% of affected individuals overall (Savino et al 1979) and up to 87% of superficial ODD cases (Lorentzen 1966). Certainly, visual field defects are common in ODD, having been described in 51% of children (Chang & Pineles 2016), 75% of affected individuals overall (Savino et al 1979) and up to 87% of superficial ODD cases (Lorentzen 1966).…”

“…Reported frequencies of patients with visual field defects range in larger studies from 11.2% to 87%, Table 1 (Lorentzen 1966;Erkkila 1975;Savino et al 1979;Brudet-Wickel et al 1981;Stevens & Newman 1981;Mustonen 1983;Hoover et al 1988;Kiegler 1995;Wilkins & Pomeranz 2004;Calvo-Gonzalez et al 2006;Obuchowska & Mariak 2008;Gili et al 2013;Duncan et al 2016;Malmqvist et al 2016c). An alternative explanation is that visual field loss occurs secondary to vascular compromise, because defects correlate with lower systolic flow velocities in the central retinal artery in children and adults with ODD (Chang & Pineles 2016). An alternative explanation is that visual field loss occurs secondary to vascular compromise, because defects correlate with lower systolic flow velocities in the central retinal artery in children and adults with ODD (Chang & Pineles 2016).…”

“…The morphological characteristics of ODD on OCT have mainly been described as a signal-poor core surrounded by a hyperreflective margin (Yi et al 2009 Several OCT studies have implemented terminology derived from prior reports, which have characterized ODD as hyperreflective structures (Kulkarni et al 2014;Rebolleda et al 2015;Chang & Pineles 2016;Tugcu & Ozdemir 2016). A critical appraisal regarding this description has however been raised (Slotnick & Sherman 2012b;Malmqvist et al 2017a).…”

The diagnostic challenge of evaluating papilledema in the pediatric patient

“…[2] Typically, they begin as buried deposits and migrate toward the nerve surface in adulthood. Buried drusen can cause disc elevation mimicking papilledema and may appear “lumpy” in appearance compared to a more uniform elevation in papilledema.…”