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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