Optical coherence tomography and electrophysiology of retinal and visual pathways in Wilson’s disease

Abstract

We evaluated correlations between positive findings of changes on brain magnetic resonance imaging (MRI) and selected morphological and electrophysiological parameters of the retinal and visual systems in Wilson’s disease. Fifty-eight Wilson’s disease symptomatic patients were divided according to whether they displayed brain changes on MRI (positive, n = 39; negative, n = 19). All participants and healthy control group (n = 30), underwent retinal optical coherence tomography to assess the thickness of macula and the total retinal nerve fiber layer. Visual evoked potentials were measured and electroretinography was performed. Macular and retinal nerve fibers were thinner in participants with changes on MRI than in participants without changes. Electrophysiological parameters were markedly different in the MRI positive group compared with the negative group and 30 healthy controls; however, some abnormalities were evident in cases without visible brain pathology. Morphological and electrophysiological changes of retinal and visual pathways are associated with MRI visualized brain injury in Wilson’s disease and may be useful for detecting the degree of neurodegeneration.

Optical coherence tomography as a marker of neurodegeneration in patients with Wilson’s disease

“…The morphological changes in the retina influence its proper function. A previous study conducted on patients with WD showed that this degeneration causes retardation of conductivity along the visual pathway, which was confirmed by prolonged VEP latency [ 4 ].…”

“…A previous study conducted in patients with WD also found retinal thinning in these patients when examined using OCT [ 4 , 8 ]. Brain magnetic resonance imaging (MRI) changes in patients with WD reflects nervous system injury [ 11 – 15 ].…”

“…This proves the relationship between degeneration of the retina, which is an element of the central nervous system, and other impairment of the nervous system affected by WD. The results show the possible role of OCT as a potential non-invasive technique that can be used together with brain MRI [ 4 ] and UWDRS to assess recovery, progression, and monitor treatment in patients with WD.…”

“…Recent studies detected morphological and functional disturbances in visual pathways in patients with WD using optical coherence tomography (OCT), electroretinography, and visually evoked potentials [ 4 , 5 ]. OCT is a non-invasive imaging technique that provides objective assessments of the retinal nerve fiber layer (RNFL), which is mainly composed of unmyelinated axons [ 6 , 7 ].…”

“…Brain magnetic resonance imaging (MRI) changes in patients with WD reflects nervous system injury [ 11 – 15 ]. A recent study showed that thinning of the macula and RFNL was especially pronounced in the group of patients with WD who had MRI changes [ 4 ].…”