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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Related further reading

The College of Optometrists and the Optical Fees Negotiating Committee (OFNC) call on the government to make a long-term commitment to primary eye care in its NHS 10-Year Health Plan as part of the shift from hospital to community.

The College of Optometrists calls for vital community minor and urgent eye care services to be universally commissioned in England

Optometrists talk to patients about eye health every day, and have an important role to play in health promotion and public health.