Pediatric Ophthalmology

OPTIC DISC DRUSEN (PSEUDOPAPILLEDEMA) 157

■ Space-occupying lesions have been har bored with optic disc drusen and progres sive visual loss. ■ Optic nerve drusen have been associated with retinitis pigmentosa, pseudoxan thoma elasticum and angioid streaks, and Alagille syndrome. Differential Diagnosis ● Optic neuritis ● Posterior scleritis ● Toxoplasmosis ● Idiopathic intracranial hypertension ● Ischemic optic neuropathy ● Compressive optic neuropathy ● Optic nerve infiltrates ● Papilledema ● Sarcoidosis ● Optic nerve tumors ● Leber hereditary optic neuropathy Diagnostic Evaluation ● B-scan ultrasonography: Drusen ap pear with high reflectivity and posterior shadowing. ● Fundus autofluorescence: Drusen display autofluorescence (poor reliability in buried drusen). ● Fluorescein angiography: drusen stain in late stage. Helpful to distinguish between op tic disc drusen and true optic disc edema ● OCT: focal hyperreflective mass posterior to the outer plexiform and outer nuclear lay ers, with loss of the inner and outer segment photoreceptor junction (poor reliability at distinguishing buried drusen vs. true optic disc edema). A decreased average RNFL is sugges tive of partial optic atrophy and the presence of VF defect. ● VF testing should be performed as soon as children can do so reliably. ● Orbital computed tomography (CT)— calcification in optic disc

congenitally dysplastic discs with a propen sity for drusen formation, or a small scleral canal that physically compresses the optic nerve, causing ganglion cell death, with extru sion and calcification of mitochondria. ● Optic drusen may be transmitted as an irregular dominant trait—they are frequently familial. Symptoms ● Usually asymptomatic with no visual complaints ● Rarely (especially in children) transient visual obscuration—probably secondary to transient disc ischemia Signs ● Disc is often elevated and its margins are blurred and obscured. ● Disc vessel is clearly visible, without hyperemia, dilated capillaries, or venous congestion. ● Absence of exudates and cotton wool spots ● Retinal vasculature of eyes is frequently anomalous—higher frequency of cilioretinal arteries ● Afferent pupillary defect and acquired dy schromatopsia may be present and they are signs of an optic neuropathy. ● VF can show peripheral defects that tend to increase in frequency with increasing age. The progression is generally slow. The most com mon VF defects are nasal defect, concentric constriction, and enlarged blind spot. ● Peripapillary or disc hemorrhage, choroidal neovascular membrane (CNVM), nonarteritic anterior ischemic optic neuropathy (NAION), and retinal artery or vein occlusion can be complications of optic disc drusen. ● Associated conditions may include the following: ■ Optic disc drusen have been reported in association with many ocular and systemic disorders.

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