Optic Disc Drusen

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Findings

  • round, white-yellowhish changes on the optic disc, often visible nasally
  • Pseudopapilledema blurred or irregular disc margins, no vascular obsucrations
  • Elevated optic nerve head, often small
  • tortuous vessels, optociliary shunt vessels
  • usually bilateral
  • RNFL may be reduced
  • associated with retinitis pigmentosa and pseudoxanthoma elasticum

Clinical Signs

  • usually asymptomatic, incidental finding
  • visual acuity usually normal
  • visual field defects, usually stable or progress very slowly (unrelated to IOP)
  • transient visual obscurations
  • rare complications: N-AION, optic disc haemorrage, peripapillary CNV

Work-up

  • OCT
    • rundliche Strukturen mit signalarmem Kern, hyperreflektive Linien ohne Schallschatten
    • OCT RNFL
  • Autofluoreszenz
  • Ultraschall
    • ggf. Gain reduzieren
  • Gesichtsfeld

Differential diagnosis

  • astrocytic hamartoma (tuberous sclerosis, neurofibromatosis)

Therapy

  • no proven therapy
  • IOP lowering controversial

Sources