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Related Experiment Videos

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Isabelle Audo1, Olivier M Vanakker, Alaric Smith

  • 1Laboratoire de Physiopathologie Cellulaire Moléculaire et de la Rétine, Institut National de la Santé et de la Recherche Médicale, Université Pierre et Marie Curie, Paris, France.

Investigative Ophthalmology & Visual Science
|August 29, 2007
PubMed
Summary
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Retinal dysfunction is common in pseudoxanthoma elasticum (PXE), a genetic disorder. This study found reduced retinal function in PXE patients, suggesting potential metabolic disturbances affecting vision.

Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Connective Tissue Diseases

Background:

  • Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder affecting elastic fibers, causing cutaneous, vascular, and ophthalmic issues.
  • Mutations in the ABCC6 gene are linked to PXE, with visual impairment typically attributed to neovascular complications.
  • Retinal function in PXE patients is often presumed to be normal, despite visual disturbances.

Observation:

  • Four unrelated PXE patients with unexplained visual loss underwent ophthalmic examination.
  • Retinal and macular function were assessed using full-field and pattern electroretinograms (ERG) per ISCEV standards.
  • ABCC6 gene analysis was conducted via dHPLC and sequencing in three patients.

Findings:

  • Electroretinograms (ERG) showed significant reductions in both cone and rod responses across all four patients.

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  • ABCC6 mutations were identified in three patients, including a novel nonsense mutation (p.L1474X) and previously reported mutations.
  • Funduscopic findings varied among the patients.

    • Implications:

    • Retinal dysfunction appears to be a frequent manifestation of PXE.
    • The underlying cause of retinal dysfunction remains unclear, possibly involving metabolic disturbances and retinal toxicity.
    • Genetic or environmental factors may modulate the PXE phenotype, influencing retinal involvement.