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Optic disc drusen
Last reviewed: 07.07.2025
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Disc drusen (hyaline bodies) are hyaline-like calcified material within the optic disc. They are clinically present in approximately 0.3% of the population and are often bilateral. Only a minority of family members have disc drusen, but almost half have abnormal disc vessels and lack of physiological cupping.
Clinical features
Deep drusen. In early childhood, drusen may be difficult to detect because they lie deeper than the surface of the disc. In this location, they may mimic a stagnant disc. Signs of disc drusen may include:
- Protruding disc with scalloped edge without physiological excavation.
- Absence of hyperemia of the disc surface.
- The superficial vessels are not hidden despite the protrusion of the disc.
- Abnormal vascular pattern including early branching, increased number of large retinal vessels, and vascular tortuosity.
- Spontaneous venous pulse may be present in 80% of cases.
Superficial drusen: Typically in early adolescence, drusen appear on the surface of the disc as waxy, pearl-like bumps.
Complications are rare.
- A small number of patients develop visual disturbances as a result of juxtapapillary choroidal neovascularization.
- Occasionally, visual field changes due to a defect in the nerve fiber bundle may occur.
Associated diseases: retinitis pigmentosa, angioid streaks, Allagille syndrome.
Special studies
To diagnose disc drusen, the following may be necessary:
Ultrasonography is the most accessible and reliable method, as it is capable of detecting calcifications. Drusen can be seen due to their high echogenicity.
CT is less sensitive than ultrasonography and may miss small drusen. Drusen may be discovered incidentally on CT scans performed for other conditions.
FAG can be useful in the following ways:
Superficial drusen produce the phenomenon of autofluorescence preceding the introduction of contrast and late local hyperfluorescence due to staining. However, these phenomena may not be visible in deep drusen, being weakened by the covering tissues.
FAG in stagnation of the disc shows increasing hyperfluorescence and late leakage.
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