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.

Sign in to continue

Forgotten password?
Register

Not already a member of the College?

Start enjoying the benefits of College membership today. Take a look at what the College can offer you and view our membership categories and rates.

Related further reading

This Road Safety Week, The College of Optometrists and Association of Optometrists are urging all drivers to ensure they have regular eye tests to check their vision still meets UK driving standards.

We are concerned that primary eye care has been omitted as a priority opportunity in the framework.

The College of Optometrists has responded to General Optical Council (GOC) consultation on draft guidance on the care of patients in vulnerable circumstances and maintaining appropriate sexual boundaries.