Inborn Errors of Metabolism: Pseudoxanthoma Elasticum

  • Stephen H. Tsang
  • Tarun SharmaEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)


  • Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder that involves the skin, GI tract, and heart, as well as the eye.

  • It affects approximately 1 in 50,000 people worldwide and is seen twice as frequently in females as in males.

  • Fundus findings include angioid streaks (Fig. 38.1), reticular macular dystrophy, speckled appearance temporal to the macula (peau d’orange, like the dimpled texture of an orange peel), drusen of the optic nerve, and vitelliform-like deposits. Peau d’orange may precede the development of an angioid streak.

  • “Comets,” with or without a tail, are seen as solitary subretinal, nodular white bodies of retinal pigment epithelium (RPE) atrophy, usually present in the mid periphery (Fig. 38.2). The tail points toward the optic disc.

  • Patients sometimes develop choroidal neovascular membrane.

  • Skin changes (plucked chicken–like appearance) occur on the flexure areas, including the neck and axilla, as well as increased skin laxity with excessive skin folding.

  • Cardiovascular changes include accelerated atherosclerosis with occlusive vascular disease leading to angina, hypertension, restrictive cardiomyopathy, mitral valve prolapse, and others.

  • Progressive calcification and fragmentation of elastic fibers in the skin, eye, and cardiovascular system is the underlying pathophysiology.


Inborn errors of metabolism Pseudoxanthoma elasticum PXE 

Suggested Reading

  1. Chiu BQ, Tsui E, Hussnain SA, Barbazetto IA, Smith RT. Multimodal imaging of angioid streaks associated with Turner syndrome. Retin Cases Brief Rep. (2018;1–4.) [Epub ahead of print].
  2. Gliem M, Müller PL, Birtel J, McGuinness MB, Finger RP, Herrmann P, et al. Quantitative fundus autofluorescence in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci. 2017;58:6159–65.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

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