Retinal single-layer analysis with optical coherence tomography shows inner retinal layer thinning in Huntington’s disease as a potential biomarker
- 108 Downloads
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.
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.
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.
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.
KeywordsHuntington’s disease Macula Optical coherence tomography Retina Retinal nerve fiber layer Retinal single layers
Compliance with ethical standards
Conflicts of interest
The authors declare that they have no conflict of interest.
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.
Informed consent was obtained from all individual participants included in the study.
- 9.Gonzalez-Lopez JJ, Rebolleda G, Leal M, Oblanca N, Munoz-Negrete FJ, Costa-Frossard L, Alvarez-Cermeno JC (2014) Comparative diagnostic accuracy of ganglion cell-inner plexiform and retinal nerve fiber layer thickness measures by Cirrus and Spectralis optical coherence tomography in relapsing-remitting multiple sclerosis. Biomed Res Int 2014:128517. https://doi.org/10.1155/2014/128517 CrossRefPubMedPubMedCentralGoogle Scholar
- 13.Narayanan D, Cheng H, Bonem KN, Saenz R, Tang RA, Frishman LJ (2014) Tracking changes over time in retinal nerve fiber layer and ganglion cell-inner plexiform layer thickness in multiple sclerosis. Mult Scler 20(10):1331–1341. https://doi.org/10.1177/1352458514523498 CrossRefPubMedPubMedCentralGoogle Scholar
- 14.Garcia-Martin E, Polo V, Larrosa JM, Marques ML, Herrero R, Martin J, Ara JR, Fernandez J, Pablo LE (2014) Retinal layer segmentation in patients with multiple sclerosis using spectral domain optical coherence tomography. Ophthalmology 121(2):573–579. https://doi.org/10.1016/j.ophtha.2013.09.035 CrossRefPubMedGoogle Scholar
- 15.Satue M, Obis J, Rodrigo MJ, Otin S, Fuertes MI, Vilades E, Gracia H, Ara JR, Alarcia R, Polo V, Larrosa JM, Pablo LE, Garcia-Martin E (2016) Optical coherence tomography as a biomarker for diagnosis, progression, and prognosis of neurodegenerative diseases. J Ophthalmol 2016:8503859. https://doi.org/10.1155/2016/8503859 CrossRefPubMedPubMedCentralGoogle Scholar
- 19.Li M, Yasumura D, Ma AA, Matthes MT, Yang H, Nielson G, Huang Y, Szoka FC, Lavail MM, Diamond MI (2013) Intravitreal administration of HA-1077, a ROCK inhibitor, improves retinal function in a mouse model of huntington disease. PLoS ONE 8(2):e56026. https://doi.org/10.1371/journal.pone.0056026 CrossRefPubMedPubMedCentralGoogle Scholar
- 20.Batcha AH, Greferath U, Jobling AI, Vessey KA, Ward MM, Nithianantharajah J, Hannan AJ, Kalloniatis M, Fletcher EL (2012) Retinal dysfunction, photoreceptor protein dysregulation and neuronal remodelling in the R6/1 mouse model of Huntington’s disease. Neurobiol Dis 45(3):887–896. https://doi.org/10.1016/j.nbd.2011.12.004 CrossRefPubMedGoogle Scholar
- 22.Johnson MA, Gelderblom H, Rüther K, Priller J, Bernstein SL (2014) Evidence that Huntington’s Disease Affects Retinal Structure and Function. Invest Ophthalmol Vis Sci 55(13):1644-1644Google Scholar