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Ophthalmology and Visual Sciences

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum

Category(ies): Retina, Vitreous, Genetics
Contributor: Jesse Vislisel, MD
Photographer: Brice Critser, CRA

Pseudoxanthoma elasicum (PXE, Gronblad-Strandberg syndrome) is due to a mutation in the ABCC6 gene and most commonly follows an autosomal recessive inheritance pattern. It is the most common cause of angioid streaks, or breaks in a thickened and calcified Bruch membrane, visible as dark red-brown bands radiating from the optic discs in these photos. Note the stippled, peau d'orange appearance of the fundi which is typical for this disorder.