Disease-gene associations mined from literature

Human genes for optic disk drusen

Optic disk drusen [DOID:13561]

Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and mucopolysaccharides that progressively calcify in the optic disc. They are thought to be the remnants of the axonal transport system of degenerated retinal ganglion cells. ODD have also been referred to as congenitally elevated or anomalous discs, pseudopapilledema, pseudoneuritis, buried disc drusen, and disc hyaline bodies. They may be associated with vision loss of varying degree occasionally resulting in blindness.

Synonyms:  optic disk drusen,  DOID:13561,  Drusen of optic disc,  optic nerve head drusen