Characterizing differences in retinal and choroidal microvasculature and structure in individuals with Huntington's Disease compared to healthy controls: A cross-sectional prospective study

• Published in: PloS one Vol. 19; no. 1; p. e0296742
• Main Authors: Joseph, Suzanna, Robbins, Cason B, Haystead, Alice, Hemesath, Angela, Allen, Ariana, Kundu, Anita, Ma, Justin P, Scott, Burton L, Moore, Kathryn P L, Agrawal, Rupesh, Gunasan, Vithiya, Stinnett, Sandra S, Grewal, Dilraj S, Fekrat, Sharon
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 30.01.2024; Public Library of Science (PLoS)
• Subjects: Analysis; Biological markers; Biology and Life Sciences; Biomarkers; Care and treatment; Cognition & reasoning; Data analysis; Data collection; Density; Development and progression; Diagnosis; Disease control; Disease prevention; Eye; Family medical history; Fovea; Genetics; High-definition television; Huntingtin; Huntington's chorea; Huntington's disease; Huntingtons disease; Medical records; Medical research; Medicine and Health Sciences; Medicine, Experimental; Microvasculature; Movement disorders; Nerves; Neurological disorders; Ocular manifestations of general diseases; Optic nerve; Optics; Patient outcomes; Perfusion; Research and Analysis Methods; Retina; Sexually transmitted diseases; Signs and symptoms; Social Sciences; Software; STD; Thickness; Visual acuity; Singapore
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0296742

To characterize retinal and choroidal microvascular and structural changes in patients who are gene positive for mutant huntingtin protein (mHtt) with symptoms of Huntington's Disease (HD). This study is a cross-sectional comparison of patients who are gene positive for mHtt and exhibit symptoms of HD, either motor manifest or prodromal (HD group), and cognitively normal individuals without a family history of HD (control group). HD patients were diagnosed by Duke movement disorder neurologists based on the Unified Huntington's Disease Rating Scale (UHDRS). Fovea and optic nerve centered OCT and OCTA images were captured using Zeiss Cirrus HD-5000 with AngioPlex. Outcome metrics included central subfield thickness (CST), peripapillary retinal nerve fiber layer (pRNFL) thickness, ganglion cell-inner plexiform layer (GCIPL) thickness, and choroidal vascularity index (CVI) on OCT, and foveal avascular zone (FAZ) area, vessel density (VD), perfusion density (PD), capillary perfusion density (CPD), and capillary flux index (CFI) on OCTA. Generalized estimating equation (GEE) models were used to account for inter-eye correlation. Forty-four eyes of 23 patients in the HD group and 77 eyes of 39 patients in the control group were analyzed. Average GCIPL thickness and FAZ area were decreased in the HD group compared to controls (p = 0.001, p < 0.001). No other imaging metrics were significantly different between groups. Patients in the HD group had decreased GCIPL thickness and smaller FAZ area, highlighting the potential use of retinal biomarkers in detecting neurodegenerative changes in HD.