Pseudoxanthoma elasticum, ocular manifestations, complications and treatment

Abstract

Pseudoxanthoma elasticum (PXE), also known as Groenblad syndrome, is an inherited disorder characterised by mineralisation and fragmentation of elastic fibres in a number of organs including the skin, eyes and arterial blood vessels. The clinical manifestations of PXE centre on three major organ systems: skin, cardiovascular system and the eyes. This review focuses on the ocular manifestations of pseudoxanthoma elasticum, namely, peau d'orange, angioid streaks and choroidal neovascularisation, the clinical course of patients, the diagnostic approaches and current therapeutic strategies, such as laser photocoagulation whether transpupillary thermotherapy or photodynamic therapy, macular translocation surgery and anti-vascular endothelial growth factor treatment.