[Pseudoxanthoma elasticum-Novel therapeutic approaches on the horizon?]

Abstract

Pseudoxanthoma elasticum (PXE) is an inherited mineralization disorder that leads to calcification of elastic fibers. The ocular characteristics arise due to the calcification of Bruch's membrane, which is located between the retinal pigment epithelium and the choriocapillaris. Despite major scientific progress in understanding the underlying pathological mechanism in recent years, no causal treatment has so far been established. Therefore, the management of patients is currently limited to the treatment of secondary complications, such as intravitreal anti-vascular endothelial growth factor (VEGF) injections in cases of exudative neovascularization. This article discusses upcoming studies that aim to reduce ectopic mineralization. To confirm the diagnosis and possible inclusion in such studies a second assessment should therefore be carried out in a specialized center for PXE.