Ophthalmologic Manifestations of Pseudoxanthoma Elasticum Differential Diagnoses

Updated: Jun 01, 2022
  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
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DDx

Diagnostic Considerations

Angioid streaks: Pseudoxanthoma elasticum is the most common systemic disorder associated with angioid streaks. Angioid streaks are also found in patients with Ehlers-Danlos syndrome (EDS) and other hereditary disorders of collagen, usually inherited in an autosomal dominant manner, characterized by joint hypermobility, skin extensibility, and tissue fragility.

Other ocular findings in EDS include epicanthal folds, keratoconus, high myopia, posterior staphyloma, retinal detachment, blue sclera, and ectopia lentis. Systemic associations of EDS include thin, hyperplastic skin that heals poorly; hyperextensible joints that may predispose to recurrent falls; cardiovascular diseases, including dissecting aneurysms, spontaneous rupture of large blood vessels, and mitral valve prolapse; bleeding diatheses; diaphragmatic hernias; and diverticula of the GI and respiratory tracts. Angioid streaks can also be seen in association with Paget disease, Marfan syndrome, and sickle cell disease.

Differential Diagnoses

  • Angioid Streaks

  • Ehlers-Danlos syndrome

  • Marfan syndrome

  • Paget disease

  • Sickle Cell Disease