Optical coherence tomography measurements in Huntington's disease: a systematic review and meta-analysis

Background A connection has been established between ocular structural changes and various neurodegenerative diseases. Several studies utilizing optical coherence tomography (OCT) have detected signs of ocular structural alterations among individuals with Huntington's disease (HD). The inconsistent results reported in the literature regarding alterations in the retina and choroid encouraged us to conduct this systematic review and meta-analysis to accumulate the findings. Methods A systematic search was carried out in three electronic databases (PubMed, Embase, Scopus) to find studies reporting OCT measurements in HD cases compared with healthy controls (HC). A fixed-effects or random-effects meta-analysis was conducted according to the detected heterogeneity level. Furthermore, subgroup and sensitivity analyses, meta-regression, and quality assessment were performed. Results Eleven studies were included in the systematic review and 9 studies with a total population of 452 participants (241 cases, and 211 HC) underwent meta-analysis. Results of the analysis denoted that subfoveal choroid had a significantly reduced thickness in HD eyes compared to HC (p < 0.0001). Moreover, our analysis indicated that HD cases had a significantly thinner average (p = 0.0130) and temporal peripapillary retinal nerve fiber layer (pRNFL) (p = 0.0012) than HC. However, subjects with pre-HD had insignificant differences in average (p = 0.44) and temporal pRNFL thickness (p = 0.33) with the HC group. Conclusion Results of the current systematic review and meta-analysis revealed the significant thinning of average and temporal pRNFL and subfoveal choroid in HD compared to HC. However, OCT currently might be considered insensitive to be applied in the pre-HD population at least until further longitudinal investigations considering variables such as the duration between OCT measurement and disease onset validating OCT as a routine diagnostic tool in HD clinics.