Retinal neurodegeneration in Wilson's disease revealed by spectral domain optical coherence tomography

PLoS One. 2012;7(11):e49825. doi: 10.1371/journal.pone.0049825. Epub 2012 Nov 16.


Background/objective: In addition to cirrhosis of the liver, Wilson's disease leads to copper accumulation and widespread degeneration of the nervous system. Delayed visual evoked potentials (VEPs) suggest changes to the visual system and potential structural changes of the retina.

Methods: We used the latest generation of spectral domain optical coherence tomography to assess the retinal morphology of 42 patients with Wilson's disease and 76 age- and sex-matched controls. We measured peripapillary retinal nerve fiber layer (RNFL) thickness and total macular thickness and manually segmented all retinal layers in foveal scans of 42 patients with Wilson's disease and 76 age- and sex-matched controls. The results were compared with VEPs and clinical parameters.

Results: The mean thickness of the RNFL, paramacular region, retinal ganglion cell/inner plexiform layer and inner nuclear layer was reduced in Wilson's disease. VEPs were altered with delayed N75 and P100 latencies, but the N140 latency and amplitude was unchanged. An analysis of the laboratory parameters indicated that the serum concentrations of copper and caeruloplasmin positively correlated with the thickness of the outer plexiform layer and with N75 and P100 VEP latencies.

Conclusion: Neuronal degeneration in Wilson's disease involves the retina and changes can be quantified by optical coherence tomography. While the VEPs and the thickness of the outer plexiform layer appear to reflect the current copper metabolism, the thicknesses of the RNFL, ganglion cell/inner plexiform layer, inner nuclear layer and the total paramacular thickness may be the best indicators of chronic neuronal degeneration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Evoked Potentials, Visual
  • Female
  • Hepatolenticular Degeneration / complications*
  • Humans
  • Macula Lutea / pathology
  • Male
  • Middle Aged
  • Retina / pathology
  • Retinal Degeneration / diagnosis*
  • Retinal Degeneration / etiology*
  • Tomography, Optical Coherence*

Grant support

The Department of Neurology, Heinrich-Heine-Universität Düsseldorf, is supported in part by the Walter-and-Ilse-Rose-Stiftung (for OCT research, to OA and HPH) and in part by the “Deutsche Forschungsgemeinschaft” through Sonderforschungsbereich 974 “Kommunikation und Systemrelevanz bei Leberschädigung und Regeneration” (for research regarding CNS involvement upon liver damage, TP B7, to OA). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.