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.
Ophthalmic Atlas Images by EyeRounds.org, The University of Iowa are licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.
Address
University of IowaLegal
Related Links
