University of Iowa Health Care

Ophthalmology and Visual Sciences

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Angioid Streaks and Optic Disc Drusen in Pseudoxanthoma Elasticum

Contributor: Eric Chin, MD

Photographer: Cindy Montague, CRA

34-year-old female with a recent diagnosis of pseudoxanthoma elasticum (PXE) by skin biopsy, one month prior to presentation. She had no visual complaints.

  • BCVA cc:
    • OD 20/20
    • OS 20/20
  • IOP: OD 16, OS 18
Right Eye. Disk drusen (arrow heads); normal vessels; angioid streaks (arrows) emanating from the optic nerve (click image for higher resolution)
Angioid streaks Angioid streaks
Left eye: Disc drusen (arrow heads); normal vessels; angioid streaks (arrows) emanating from the optic nerve (click image for higher resolution)
Disc drusen disk drusen
Autofluorescence, both eyes. Areas of increased autofluorescence at the nerve corresponding to the disc drusen; radial areas of hypo-autofluorescence corresponding to angioid streaks. (click image for higher resolution)
Autofluorescence
External Photo. Neck, right side view. Small papular lesions and cutaneous laxity of the neck ("plucked chicken skin") consistent with pseudoxanthoma elasticum. (click image for higher resolution)
External Photo. Neck, right side view. Small papular lesions and cutaneous laxity of the neck ("plucked chicken skin") consistent with pseudoxanthoma elasticum.

Angioid Streaks

  • Named because of their resemblance to blood vessels.
  • Result from crack-like breaks in weakened Bruch's membrane ("peau d'orange" appearance) that radiate out from the optic nerve.
  • Seen with pseudoxanthoma elasticum (most commonly), Ehler's Danlos syndrome, Paget's disease, sickle cell anemia, or Idiopathic ("PEPSI"). Other associations include abetalipoproteinemia, acromegaly, diabetes mellitus, facial angiomatosis, hemochromatosis, hemolytic anemia, hereditary spherocytosis, hypercalcinosis, hyperphosphatemia, lead poisoning, myopia, neurofibromatosis, senile elastosis, Sturge-Weber syndrome, and tuberous sclerosis.
  • Associated optic disc drusen are common.
  • Usually asymptomatic even if they cross into the foveal area, but complications include choroidal neovascularization and choroidal rupture.

Pseudoxanthoma Elasticum

  • Also known as Gronblad-Strandberg syndrome.
  • Caused by an autosomal recessive mutation in the ABCC6 gene on chromosome 16p13.1
  • Results in a fragmentation and mineralization of elastic-containing fibers in connective tissue.
  • Small, yellowish papular lesions form and cutaneous laxity mainly affects the neck, axilla, groin, and flexural creases.
  • Eye findings are present in almost all PXE patients, and usually noticed a few years after the onset of cutaneous lesions.
  • Gastrointestinal and cardiovascular systems may also be affected.

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last updated: 08/15/2013
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