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Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.

Kristina Pfau1, Imre Lengyel2, Jeannette Ossewaarde-van Norel3

  • 1Department of Ophthalmology, University Hospital Basel, Basel, Switzerland; Department of Ophthalmology, University Hospital Bonn, Bonn, Germany.

Progress in Retinal and Eye Research
|May 30, 2024
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Summary

Pseudoxanthoma elasticum (PXE) is a genetic disorder causing widespread calcification. Current research reviews PXE

Keywords:
ABCC6Bruch's membranePXEPseudoxanthoma elasticum

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Area of Science:

  • Genetics and Molecular Biology
  • Ophthalmology
  • Dermatology
  • Cardiovascular Medicine

Background:

  • Pseudoxanthoma elasticum (PXE) is an autosomal-recessive inherited multisystem disorder.
  • Caused by mutations in the ABCC6 gene, leading to reduced plasma inorganic pyrophosphate (PPi) levels.
  • Characterized by progressive calcification of elastic fibers in skin, cardiovascular system, and eyes.

Purpose of the Study:

  • To provide a comprehensive review of the current understanding of PXE.
  • To detail the multi-systemic manifestations, with a focus on ocular findings.
  • To discuss current and future clinical trials for causative PXE treatments.

Main Methods:

  • Literature review of existing research on Pseudoxanthoma elasticum.
  • Synthesis of information on genetic basis, clinical phenotypes, and treatment strategies.
  • Analysis of ocular manifestations, including morphological and functional consequences.

Main Results:

  • PXE affects multiple organ systems, notably the eyes, skin, and vasculature.
  • Ocular manifestations include peau d'orange, angioid streaks, and comet tail lesions, often leading to secondary macular neovascularization.
  • No curative therapy exists, but promising treatment approaches are under development.

Conclusions:

  • PXE is a complex genetic disorder with significant multi-systemic impact, particularly on vision.
  • Developing effective outcome measures is crucial for advancing clinical trials in PXE.
  • Ongoing research and clinical trials offer hope for future causative therapies for PXE.