Optical coherence tomography in patients with Wilson's disease

Area of Science:

• Ophthalmology
• Neurology
• Medical Imaging

Background:

• Wilson's disease (WD) is a genetic disorder causing copper accumulation.
• Morphological retinal changes in WD patients are detectable via optical coherence tomography (OCT).
• Retinal changes differ significantly between neurological (NWD) and hepatic (HWD) forms of WD.

Purpose of the Study:

• To investigate the relationship between retinal morphological parameters and brain MRI lesions in WD patients.
• To evaluate how disease course, type, and patient sexuality correlate with retinal changes.
• To determine if retinal parameters can differentiate between NWD and HWD.

Main Methods:

• Recruited 46 WD patients and 40 healthy controls (HC).
• Assessed neurological severity using the Global Assessment Scale.
• Performed OCT on all participants to measure retinal layer thicknesses, including the inner retina layer (ILM-IPL).

Main Results:

• WD patients exhibited thinner inner retina layers compared to HC.
• NWD patients had significantly thinner inner retina layers in multiple parafoveal zones compared to HWD patients.
• Disease course and patient sex influenced inner retina layer thickness, with males showing thinner layers than females.

Conclusions:

• The inner retina layer is thinner in WD patients compared to controls.
• Neurological WD is associated with thinner inner retina layers than hepatic WD.
• Inner retina layer thickness is a potential biomarker for identifying neurological WD.