Optical coherence tomography in patients with Wilson's disease

Abstract

Background: Morphological changes of retina in patients with Wilson's disease (WD) can be found by optical coherence tomography (OCT), and such changes had significant differences between neurological forms (NWD) and hepatic forms (HWD) of WD. The aim of this study was to evaluate the relationship between morphological parameters of retina and brain magnetic resonance imaging (MRI) lesions, course of disease, type of disease, and sexuality in WD.

Methods: A total of 46 WD patients and 40 health controls (HC) were recruited in this study. A total of 42 WD patients were divided into different groups according to clinical manifestations, course of disease, sexuality, and brain MRI lesions. We employed the Global Assessment Scale to assess neurological severity of WD patients. All WD patients and HC underwent retinal OCT to assess the thickness of inner limiting membrane (ILM) layer to retinal pigment epithelium layer and inner retina layer (ILM to inner plexiform layer, ILM-IPL).

Results: Compared to HWD, NWD had thinner superior parafovea zone (108.07 ± 6.89 vs. 114.40 ± 5.54 μm, p < .01), temporal parafovea zone (97.17 ± 6.65 vs. 103.60 ± 4.53 μm, p < .01), inferior parafovea zone (108.114 ± 7.65 vs. 114.93 ± 5.84 μm, p < .01), and nasal parafovea zone (105.53 ± 8.01 vs. 112.10 ± 5.44 μm, p < .01) in inner retina layer. Course of disease influenced the retina thickness. Male patients had thinner inner retina layer compared to female patients.

Conclusion: Our results demonstrated that WD had thinner inner retina layer compared to HC, and NWD had thinner inner retina layer compared to HWD. We speculated the thickness of inner retina layer may be a potential useful biomarker for NWD.

Keywords: Wilson's disease; duration; magnetic resonance imaging; optical coherence tomography.

FIGURE 1

The areas of measurement are marked in an image of the fundus. The inner retina thickness and full retina thickness were measured in scans centered on the fovea. S1, T1, I1, N1 mean superior, temporal, inferior, and nasal parafovea zones in 3 × 3 mm² centered on the fovea, S2, T2, I2, N2 mean superior, temporal, inferior, and nasal perifovea zone in 6 × 6 mm² centered on the fovea.