ETIOLOGY
-Disc drusen are composed of small proteinaceous material that become calcified with advancing age
-Consist of refractive, hyaline-like calcified nodules made of mucoproteins and mucopolysaccharides that are located within the optic nerve head
-May lead to an elevated disc (pseudopapilledema)
-Can be associated with retinitis pigmentosa, angioid streaks, Usher syndrome, Noonan syndrome and Alagille syndrome
PATHOPHYSIOLOGY
-Related to possibly inherited dysplasia of the optic disc with blood supply comprise, causing slowed axoplasmic flow and leading to the formation of calcific excrescences
HISTORY
-Transient visual obscuration (rarely)
-Visual field loss - enlarged blind spot
SIGNS
-Elevated, often small, optic disc with indistinct and irregular disc margins
-Drusen seen as round, white/yellow refractile bodies on the surface of the nerve or buried beneath it
-Anomalous vascular branching pattern (tortousity, optociliary shunt vessels)
-Nasal margin is most common site of drusen
-Spontaneous venous pulsations often seen
-Afferent pupillary defect if there is asymmetric nerve involvement
DIAGNOSIS
-Clinical fundus examination
-B-scan/ A-scan - highly reflective. When decreasing the gain setting, calcified drusen maintain high signal intensity
-FAF - Autofluorescence of drusen
-FFA - Early frames on the FA will demonstrate focal blockage of fluorescence. There may also be nodular late staining without leakage from disc surface capillaries
-CT scan - Calcium produces bright signal at junction of the posterior globe and optic nerve on a CT scan
MANAGEMENT
-No treatment required
-Good visual prognosis
Image from Rajan Eye Care Hospital
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