Management of PXE
3 February 2025
Winter 2025
Sean Matthews Mackie FCOptom discusses a case of the rare systemic disorder PXE, which can put patients at higher risk of vascular disease and choroidal neovascularisation, and is diagnosed in part through retinal examination.
Presentation
A 24-year-old female patient attended our practice in September 2024. She had booked a routine eye examination, reporting that she felt her vision was a little worse. She has long-standing, very occasional photopsia, which is worse on waking and stable. She does not see floaters.
Case history
She had lost her spectacles, which were a few years old, although she had stopped wearing them.
RE: unaided vision 6/6, refraction: +0.25/-0.25 × 155 VA 6/6
LE: unaided vision 6/6, refraction: +0.25/-0.25 × 180 VA 6/6
Binocular near unaided vision: N4 @40cm
Medical history
- General health: good. Non-atopic.
- Medication: contraceptive pill.
- Previous ocular history: first attended our practice in 2014 with no previous ocular history.
- Family medical history: none on maternal side. Paternal family history not known, as father adopted.
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