Congenitally Elevated Optic Disc Anomaly

What is it?

Optic disc elevation present from birth
Probably caused by small scleral opening so that optic nerve axons are tight fit
Other dysplastic features may contribute to elevation
Usually does not disturb vision

There is no physiologic cup; compare to normal physiologic cup
Nerve fiber layer adjacent to optic disc not obscured as it would be in acquired causes of optic disc elevation ("papilledema")
No optic disc surface hemorrhages or cotton wool spots
Dome-shaped rather than doughnut-shaped optic disc elevation, characteristic of papilledema
Optic disc drusen-glistening white chunks sometimes appear on optic disc surface; they are calcified mitochondria extruding from axons

Refer to ophthalmologist non-urgently if this is isolated finding in asymptomatic patient
Refer urgently if patient has symptoms to suggest vision loss or increased intracranial pressure

Even experienced eye care providers cannot always distinguish congenitally elevated optic disc anomaly from acquired optic disc elevation by ophthalmoscopy alone, therefore...
Non-ophthalmoscopic clues must be used to make this distinction
Examiners will mistake congenitally elevated optic disc elevation for papilledema over and over
Congenitally elevated optic disc elevation with drusen may be associated with visual field loss that may be progressive