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Related Experiment Videos

Visual loss associated with pseudoxanthoma elasticum.

E Y Yap1, M S Gleaton, H Buettner

  • 1Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905.

Retina (Philadelphia, Pa.)
|January 1, 1992
PubMed
Summary
This summary is machine-generated.

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Pseudoxanthoma elasticum can cause severe vision loss due to optic nerve infarction and gastrointestinal bleeding. This case highlights the systemic vascular risks associated with this connective tissue disorder.

Area of Science:

  • Ophthalmology
  • Vascular Medicine
  • Genetics

Background:

  • Pseudoxanthoma elasticum is a rare genetic disorder affecting elastic tissue.
  • It can lead to significant systemic and ocular complications.

Observation:

  • An 18-year-old woman with pseudoxanthoma elasticum experienced sudden bilateral vision loss due to optic nerve infarction.
  • She required multiple surgeries for massive gastrointestinal bleeding, revealing gastric artery aneurysms and degeneration of the elastic lamina.
  • Later, she developed choroidal neovascularization in her remaining good eye.

Findings:

  • Degeneration of elastic tissue in pseudoxanthoma elasticum can lead to vascular complications, including aneurysms and arterial degeneration.
  • Ocular manifestations include angioid streaks, choroidal neovascularization, and optic nerve involvement.

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  • Massive gastrointestinal bleeding can precipitate vision loss through anemia and hypotension.

    • Implications:

    • This case underscores the systemic vascular manifestations of pseudoxanthoma elasticum, extending beyond ocular findings.
    • Ophthalmologists should be aware of potential systemic complications, including gastrointestinal bleeding and vascular events.
    • Early recognition and multidisciplinary management are crucial for patients with pseudoxanthoma elasticum to prevent severe morbidity and vision loss.