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Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disease of the connective tissue which primarily affects the skin, the retina and the cardiovascular system.1 PXE is characterised by mineralisation and fragmentation of elastic fibres. Eye involvement results from calcification and breaks in the Bruch’s membrane (BM), causing a variety of ocular fundus changes (figure 1).1 ,2 Among them, angioid streaks can be complicated by choroidal neovascularisation and/or macular atrophy resulting in central visual loss.1 Although central visual loss in PXE profoundly impacts quality of life,1 little is known about other risk factors for visual impairment. The aim of our study was to determine if visual impairment related to maculopathy in PXE may be associated with age and other specific retinal features.
Contributors Substantial contributions to conception and design, acquisition of data or analysis and interpretation of data: JME, DM, AT, LM, JFH. Drafting the article or revising it critically for important intellectual content: JME, DM, PB, GL, LM. Final approval of the version to be published: all authors.
Competing interests None.
Patient consent Obtained.
Ethics approval Regular clinical practice in the setting of a referral centre. Absence of intervention.
Provenance and peer review Not commissioned; externally peer reviewed.