Emilia Gatto1,2, Virginia Parisi1, Gabriel Persi1, Estela Fernandez Rey3, Martin Cesarini3, José Luis Etcheverry3, Pablo Rivera3, Ferdinando Squitieri4. 1. a Department of Neurology , Sanatorio de la Trinidad Mitre , Buenos Aires , Argentina. 2. b Department of Movement Disorders , Fundación INEBA , Buenos Aires , Argentina. 3. c Department of Neuro-opthamology , Hospital Oftalmológico Santa Lucía , Buenos Aires , Argentina. 4. d Huntington and Rare Diseases Unit at IRCCS Casa Sollievo della Sofferenza , San Giovanni Rotondo , Italy.
Abstract
BACKGROUND: Huntington's disease (HD) is a genetic, rare and progressive neurodegenerative disorder that causes motor and cognitive impairment in midlife patients. Although retinal damage was observed in animal HD models and in patients with other neurodegenerative diseases, we still need confirmation of impairment in HD patients. Optical coherence tomography (OCT) is a non-invasive methodology that analyses the retinal nerve fibre layers (RNFL) and could reflect processes of neurodegeneration. METHODS: A cross-sectional study with 14 HD patients who underwent a spectral domain OCT. Results were compared with a control group. Demographic data were also obtained. RESULTS: Temporal and superior RNFL sectors in HD showed a significant RNFL thinning compared with a control group. However, no differences were identified in mean total RNFL thickness between HD patients and controls. CONCLUSIONS: OCT is a rapid and non-invasive technique that can be investigated in larger cohorts of patients to assess its potential role as a biomarker in HD patients.
BACKGROUND:Huntington's disease (HD) is a genetic, rare and progressive neurodegenerative disorder that causes motor and cognitive impairment in midlifepatients. Although retinal damage was observed in animal HD models and in patients with other neurodegenerative diseases, we still need confirmation of impairment in HDpatients. Optical coherence tomography (OCT) is a non-invasive methodology that analyses the retinal nerve fibre layers (RNFL) and could reflect processes of neurodegeneration. METHODS: A cross-sectional study with 14 HDpatients who underwent a spectral domain OCT. Results were compared with a control group. Demographic data were also obtained. RESULTS: Temporal and superior RNFL sectors in HD showed a significant RNFL thinning compared with a control group. However, no differences were identified in mean total RNFL thickness between HDpatients and controls. CONCLUSIONS: OCT is a rapid and non-invasive technique that can be investigated in larger cohorts of patients to assess its potential role as a biomarker in HDpatients.
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