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Optical coherence tomography in patients with Wilson's disease
Marina Svetel1,2, Marija Božić2,3, Jelena Vitković1
1Clinical Center of Serbia, Neurology Clinic, Belgrade, Serbia.
Acta Neurologica Scandinavica
|April 21, 2021
Summary
Optical coherence tomography (OCT) revealed reduced retinal nerve fibre layer (RNFL) thickness in Wilson disease (WD) patients. However, OCT parameters did not correlate with disease form, duration, or neurological severity, leaving its value as a biomarker uncertain.
Area of Science:
- Ophthalmology
- Neurology
- Genetics
Background:
- Wilson disease (WD) is an inherited disorder causing copper buildup, often impacting vision.
- Optical coherence tomography (OCT) can detect retinal structural changes, including retinal nerve fibre layer (RNFL) thickness.
Purpose of the Study:
- To investigate the relationship between OCT-measured RNFL thickness and WD characteristics.
- To assess if RNFL thickness correlates with disease form, therapy, symptom duration, or neurological impairment severity.
Main Methods:
- A study involving 52 WD patients and 52 healthy controls (HC).
- Patients were categorized into neurological (NWD) or hepatic (HWD) forms.
- OCT was used to measure RNFL thickness in all participants.
Main Results:
- WD patients exhibited significantly lower intraocular pressure and RNFL thickness compared to HC.
- No significant differences in ophthalmological parameters were observed between NWD and HWD groups.
- RNFL thickness did not correlate with clinical features, disease duration, or neurological severity.
Conclusions:
- Retinal changes in WD appear as subclinical findings, particularly in neurologically intact HWD patients.
- The utility of OCT as a biomarker for monitoring WD progression remains uncertain.
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