Optic Disc Drusen
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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