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Retinal single-layer analysis with optical coherence tomography shows inner retinal layer thinning in Huntington’s disease as a potential biomarker

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Abstract

Purpose

There have been ongoing clinical trials of therapeutic agents in Huntington’s disease (HD) which requires development of reliable biomarkers of disease progression. There have been studies in the literature with conflicting results on the involvement of retina in HD, and up to date there is not a study evaluating the single retinal layers in HD. We aimed to evaluate the specific retinal changes in HD and their usability as potential disease progression markers.

Methods

This cross-sectional study used spectral-domain optical coherence tomography with automatic segmentation to measure peripapillary retinal nerve fiber layer (pRNFL) thickness and the thickness and volume of retinal layers in foveal scans of 15 patients with HD and 15 age- and sex-matched controls. Genetic testing results, disease duration, HD disease burden scores and Unified HD Rating Scales motor scores were acquired for the patients.

Results

Temporal pRNFL, macular RNFL (mRNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer and outer plexiform layer thicknesses and IPL, retinal pigment epithelium and outer macular volume were found lower in HD compared to controls, while outer nuclear layer and outer retinal layer thickness were increased (p < 0.05). We found significant correlations between inner retinal layer thicknesses, most significantly with mRNFL and GCL and disease progression markers.

Conclusion

The outcomes of this study points out that retinal layers, most significantly mRNFL and GCL, are strongly correlated with the disease progression in HD and could serve as useful biomarkers for disease progression.

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Authors and Affiliations

  1. Department of Ophthalmology, Faculty of Medicine, Erciyes University, 38039, Kayseri, Turkey

    Duygu Gulmez Sevim, Metin Unlu & Cagatay Karaca

  2. Department of Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey

    Murat Gultekin

Authors
  1. Duygu Gulmez Sevim
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  2. Metin Unlu
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  3. Murat Gultekin
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  4. Cagatay Karaca
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Correspondence to Duygu Gulmez Sevim.

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The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Cite this article

Gulmez Sevim, D., Unlu, M., Gultekin, M. et al. Retinal single-layer analysis with optical coherence tomography shows inner retinal layer thinning in Huntington’s disease as a potential biomarker. Int Ophthalmol 39, 611–621 (2019). https://doi.org/10.1007/s10792-018-0857-7

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  • DOI: https://doi.org/10.1007/s10792-018-0857-7

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