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<p>Pseudoxanthoma elasticum (PXE) is an autosomal–recessive multisystem disease characterized by elastic fiber calcification in the skin, the cardiovascular system, and eyes. PXE is caused by biallelic mutations in the <i>ABCC6&#xa0;</i>gene on chromosome&#xa0;16, resulting in low inorganic pyrophosphate plasma levels. Typical ocular manifestations result from calcification of Bruch’s membrane and include peau d’orange, angioid streaks, and comet-tail lesions. Advances in multimodal imaging have significantly improved the detection of these features. Ocular complications in PXE include the development of secondary neovascularization, which can be treated with anti-vascular endothelial growth factor (VEGF) injections. In cases of suspected PXE, genetic testing and genetic counseling should be performed for diagnostic confirmation. Early referral to a&#xa0;specialized center is essential. Interdisciplinary care and management of complications, particularly in collaboration with angiologists, are crucial for treating this multisystem disorder. Although no approved causal therapy for PXE currently exists to date, accurate and early diagnosis using phenotypic characteristics is critical. Early identification of other affected family members and timely treatment of secondary complications allow for better disease management and offer patients the opportunity to participate in ongoing clinical trials. Promising therapeutic options are currently emerging and may significantly improve management and prognosis in the future.</p>

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Okuläre Veränderungen bei Pseudoxanthoma elasticum

  • 期刊论文

  • 发表日期：

    2025年6月2日

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  • Kristin Raming,
  • Jonathan Meinke,
  • Georg Ansari,
  • Giuseppe Cancian,
  • Katja Stürzebecher,
  • Daniel Staub,
  • Nicolas Feltgen,
  • Frank G. Holz,
  • Maximilian Pfau,
  • Kristina Pfau

摘要

Pseudoxanthoma elasticum (PXE) is an autosomal–recessive multisystem disease characterized by elastic fiber calcification in the skin, the cardiovascular system, and eyes. PXE is caused by biallelic mutations in the ABCC6 gene on chromosome 16, resulting in low inorganic pyrophosphate plasma levels. Typical ocular manifestations result from calcification of Bruch’s membrane and include peau d’orange, angioid streaks, and comet-tail lesions. Advances in multimodal imaging have significantly improved the detection of these features. Ocular complications in PXE include the development of secondary neovascularization, which can be treated with anti-vascular endothelial growth factor (VEGF) injections. In cases of suspected PXE, genetic testing and genetic counseling should be performed for diagnostic confirmation. Early referral to a specialized center is essential. Interdisciplinary care and management of complications, particularly in collaboration with angiologists, are crucial for treating this multisystem disorder. Although no approved causal therapy for PXE currently exists to date, accurate and early diagnosis using phenotypic characteristics is critical. Early identification of other affected family members and timely treatment of secondary complications allow for better disease management and offer patients the opportunity to participate in ongoing clinical trials. Promising therapeutic options are currently emerging and may significantly improve management and prognosis in the future.