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Joao Nuno Bicho Beato, Carlos Andrade, Ana Monteiro, Andreia Costa, Joana Guimarães, Carolina Garrett, Elisete Brandão, Fernando Falcão-Reis, Susana Penas; Spectral-domain Optical Coherence Tomography in Huntington Disease: Potential Biomarker?. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):3869.
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Clinical evaluation, neuroimaging, and biochemical biomarkers have been extensively investigated in Huntington's disease, but none has been established. We performed a prospective cross-sectional observational study to investigate retinal and choroidal changes in HD and evaluate any potential correlation with stage of the disease.
A thorough neurological evaluation was performed on HD patients, including Motor Score of the Unified Huntington's disease rating scale (TMS-UHDRS), total functional capacity (TFC) and independency status (IS). Age and sex matched healthy controls enrolled were collected from the Ophthalmology Department database. Both groups underwent examination through dilated pupil using the Spectralis HRA+OCT®, Heidelberg® with the enhanced depth imaging (EDI). Peripapillary RNFL and choroidal thickness (PCT), macular and choroidal thickness (MT, CT) and respective volumes (MV, CV) were evaluated.
A total of 15 eyes of 8 HD patients were included. Sixteen eyes of 8 healthy sex, age and mean refractive error-matched controls were selected. Nasal RNFL, temporal PCT, superior peripheral MT and MV and all macular choroidal thickness and volume measurements were significantly (p<0.05) reduced in patients when compared to controls. Several MT and MV measurements, were positively correlated with TFC and IS and negatively correlated with TMS-UHDRS, along with PCT measurements.
This findings suggest that both retina and choroid may be affected in HD. Moreover, macular thickness and volume tend to decrease with increasing severity of the disease. This could open a way for the potential role of SD-OCT as a biomarker in HD.
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