Pseudoxanthoma elasticum, ocular manifestations, complications and treatment

Clin Exp Optom. 2011 Mar;94(2):169-80. doi: 10.1111/j.1444-0938.2010.00559.x. Epub 2010 Dec 29.

Abstract

Pseudoxanthoma elasticum (PXE), also known as Groenblad syndrome, is an inherited disorder characterised by mineralisation and fragmentation of elastic fibres in a number of organs including the skin, eyes and arterial blood vessels. The clinical manifestations of PXE centre on three major organ systems: skin, cardiovascular system and the eyes. This review focuses on the ocular manifestations of pseudoxanthoma elasticum, namely, peau d'orange, angioid streaks and choroidal neovascularisation, the clinical course of patients, the diagnostic approaches and current therapeutic strategies, such as laser photocoagulation whether transpupillary thermotherapy or photodynamic therapy, macular translocation surgery and anti-vascular endothelial growth factor treatment.

Publication types

  • Review

MeSH terms

  • Humans
  • Pseudoxanthoma Elasticum* / complications
  • Pseudoxanthoma Elasticum* / diagnosis
  • Pseudoxanthoma Elasticum* / therapy
  • Retinal Diseases* / diagnosis
  • Retinal Diseases* / etiology
  • Retinal Diseases* / therapy
  • Vision Disorders* / diagnosis
  • Vision Disorders* / etiology
  • Vision Disorders* / therapy
  • Visual Acuity*