The gene defect in PXE has been characterized as a loss of function mutation in the adenosine triphosphate-binding cassette subtype C number 6 gene (ABCC6).1 Modification in the extracellular matrix, which is important in the health and vitality of the retinal pigment epithelium (RPE), appears to be related this mutation. This evidence concerns the gene ABCC6 and Pseudoxanthoma elasticum.