When the eye leads to the diagnosis of pseudoxanthoma elasticum: a case revealed by angioid streaks and choroidal neovascularisation
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Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in the ABCC6 gene, resulting in progressive calcification and fragmentation of elastic fibres involving the skin, retina, and cardiovascular system. Cutaneous manifestations classically consist of yellowish papules and plaques affecting flexural areas, particularly the lateral neck and axillae, although cutaneous findings may occasionally be subtle. Ocular involvement is characterised by angioid streaks, representing breaks in Bruch’s membrane that may predispose to choroidal neovascularisation (CNV), retinal haemorrhage, and progressive visual impairment. [...]
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