Spectral-Domain Optical Coherence Tomography as a Potential Biomarker in Huntington's Disease

Spectral-domain optical coherence tomography has been used in several neurological conditions, and peripapillary and macular measurements have been proposed as potential biomarkers in these disorders. The aim of this study was to investigate retinal and choroidal changes in Huntington's disease and to evaluate any potential correlation with the stage of the disease.

A cross-sectional observational study compared patients with Huntington's disease and controls. Patients were evaluated using the Unified Huntington's Disease Rating Scale. Spectral-domain optical coherence tomography with enhanced depth imaging was used, and peripapillary choroidal and retinal nerve fiber layer thickness and macular retinal and choroidal thickness were evaluated.

Fifteen eyes of 8 patients and 16 eyes of 8 sex-, age-, and mean refractive error-matched healthy controls were included. Average (231.3 ± 52.8 vs 296.2 ± 57.1, P = 0.033), central (341.8 ± 70.5 vs 252.0 ± 57.9, P = 0.015), and inferior (225.3 ± 57.9 vs 313.8 ± 55.2, P = 0.007) macular choroidal thickness were significantly reduced in patients, in comparison with controls. No differences were observed in macular retina or peripapillary retinal and choroidal measurements. However, there was a negative correlation between Total Motor Score of the Unified Huntington's Disease Rating Scale and average (r(2)  = 0.585, P = 0.027), superior (r(2)  = 0.653, P = 0.015), nasal (r(2)  = 0.642, P = 0.017), and inferior (r(2)  = 0.574, P = 0.029) macular retinal thickness.

Our results suggest that both the choroidal and retinal macula are altered in Huntington's disease and may become useful biomarkers for monitoring neurodegeneration in this disease. The involvement of the choroid may also support the recent findings of vascular involvement in Huntington's disease.