Hollie’s journey: Pseudoxanthoma elasticum
3 July 2025
Hollie was diagnosed with pseudoxanthoma elasticum (PXE) in 2018, a rare condition that eventually began to impact her vision. Thanks to the expert care at Moorfields, she has received treatment to manage her eyesight. Despite ongoing challenges, Hollie continues to feel supported and shares her story.
The diagnosis
Hollie’s journey to a PXE diagnosis began when her and her sister found a picture on the internet which resembled the skin on their necks. She had never met anyone else with the same symptoms, apart from her sister and brother.
What is pseudoxanthoma elasticum (PXE)?
Learn more
PXE is a rare genetic disease that affects several parts of the body. It causes calcium and other minerals to build up in the body’s elastic fibres, and primarily affects the skin, eyes and blood vessels.
The first symptoms are often in the skin, where it particularly affects the areas that are most elastic, such as the neck, underarms and knees, and causes yellow bumps to form.
In the eye, it can cause small breaks in the Bruch’s membrane (the inner membrane of the retina), called angioid streaks. This can lead to the growth of leaky blood vessels, which can lead to sight loss.
Determined to find answers, she printed out everything she could about PXE and brought the information to her GP.
For years, doctors had assumed the skin changes were either an allergic reaction to jewellery or a side effect of her psoriasis—a condition that causes flaky, scaly patches on the skin.
That GP visit led to a referral to a dermatologist, followed by a skin biopsy, which confirmed her diagnosis of PXE in 2018. Genetic testing later provided further confirmation.
Hollie and her sister
Care at Moorfields
Hollie later developed angioid streaks in her left eye, which are small breaks in the inner membrane of the retina that can lead to the growth of leaky blood vessels.
In May 2024, her care moved to Moorfields after dormant angioid streaks in her left eye caused blood vessels to leak through her macula, significantly impacting her vision.
Moorfields also ensured that if similar symptoms emerged in her right eye, treatment would be provided promptly.
Moorfields dedication, knowledge, and kindness make all the difference in navigating this condition.
Hollie, Moorfields patient
Hollie today
Although Hollie’s vision has deteriorated over the past year due to scar tissue and continued leaks, she feels incredibly supported by the compassionate professionals at Moorfields.
While we cannot predict what the future holds for my vision, we do know that I am in the hands of people who truly care, and that is something we hold dear.
Hollie, Moorfields patient
Each month, Moorfields assesses her eyes and works tirelessly to preserve her sight.
My family and I are profoundly grateful for the expertise and empathy shown by the team at Moorfields. Every visit reassures us that I am receiving the very best care, giving us hope and comfort as we face the uncertainties ahead.
Hollie, Moorfields patient
