Background Contradictory data on retinal and choroidal thinning were found in Huntington’s disease (HD). Aims The purpose of the study is to analyze the choroidal and retinal morphology in HD using optical coherence tomography (OCT), to investigate correlation with the clinical data and to evaluate retinal OCT as a biomarker of pre-manifest HD. Methods A cross-sectional study was performed to evaluate the foveal choroidal thickness, retinal thickness in 9 areas of the macular zone, retinal ganglion cells complex (GCC) and peripapillary retinal nerve fiber layer thickness (RNFL) in HD and healthy controls. Characteristic ROC curves were performed to evaluate the diagnostic value of OCT parameters for the pre-manifest HD detection. Results Forty-four HD patients including 21 pre-manifest and 23 manifest patients and 31 healthy volunteers were recruited. Foveal choroidal thickness, GCC thickness, average, temporal, inferior and nasal RNFL thickness was lower in HD patients, in comparison with controls. In addition, an inverse correlation was found between the CAG repeat length, disease duration, UHDRS Motor Score and OCT parameters. Temporal RNFL thickness and average GCC thickness had a high diagnostic yield for pre-manifest HD. Conclusions The results confirm the promising potential of retinal tomographic parameters as a biomarker for early diagnosis and monitoring of the neurodegeneration. The localization of retinal thickness loss indicates a specific pattern of retinal neurodegeneration in HD.
