Objective: To evaluate susceptibility changes in the lentiform nucleus using 7T MRI and peripapillary retinal nerve fiber layer (p-RNFL) thickness using Optical Coherence Tomography (OCT) in patients with neurological Wilson’s disease (WD) and assess their correlation with neurological impairment.

Background: Neurological WD presents a wide range of manifestations, and despite being a treatable condition, outcomes remain mixed. Quantitative Susceptibility Mapping (QSM) is an MRI technique that enables the assessment of metal deposition, while 7T MRI provides enhanced spatial resolution of deep grey matter structures. RNFL thickness has been proposed as a marker of neurodegeneration in various diseases. Combining these imaging techniques may offer a more comprehensive approach to identifying biomarkers of disease severity and prognosis

Method: The study included 16 patients with chronically treated neurological WD. Nine patients and one healthy control underwent a 7T MRI, with QSM maps generated to quantify susceptibility in the lentiform nucleus. Fourteen patients underwent OCT imaging, with average p-RNFL thickness calculated as the mean value of both eyes. Epidemiological and clinical data, including the UWDRS scale, were collected. Pearson’s correlation coefficient was used to assess the relationship between imaging and clinical variables.

Results: The patients had a mean age of 41.3 years (12 females, 4 males) and an average disease duration of 22.6 years. The mean UWDRS II and III scores were 9.8 and 26, respectively. The mean QSM value in WD patients was 292.0 ppb (range: 162.1–440.9 ppb), compared to 143.2 ppb in the 33-year-old healthy control. QSM correlated significantly with UWDRS II (r = 0.73, p = 0.02) and UWDRS III (r = 0.80, p = 0.01), but not with age, sex, or disease duration. No significant correlations were found between RNFL thickness and UWDRS II (r = -0.44, p = 0.12) or UWDRS III (r = -0.34, p = 0.23). No correlation was observed between RNFL thickness and QSM in the 7 patients who underwent both exams.

Conclusion: QSM using 7T MRI strongly correlated with clinical severity in neurological WD. RNFL thickness showed a trend toward a negative correlation with clinical scales, but no significant associations were found. QSM seems to be a more reliable indicator of disease outcomes; however, larger sample analyses are needed to confirm these findings.

« Back to 2025 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/correlation-of-7t-mri-susceptibility-and-retinal-nerve-fiber-thickness-with-neurological-severity-in-wilsons-disease/