title: [Ophthalmic manifestations of Huntington's disease].
abstract: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin gene. The whole nervous system, including visual analyzer, is involved in the pathogenesis of the disease. Various ocular sings can be found in both preclinical and clinical stages of HD. Specific retinal damage, namely, abnormal proteins formation, photoreceptor degeneration and retinal remodeling, has been studied in animal models. Functional changes in occipital lobe activity and its atrophy as well as degeneration of visual pathways can already be present in the early stages of the disease. Oculomotor symptoms of HD include disturbed visual fixation, slower tracking eye movements and saccades, and suppressed vestibulo-ocular reflex. Visual perceptual disorders, such as visuospatial difficulties, problems of stimulus identification and motion perception, along with decreased contrast sensitivity, have also been described. The possibility of using certain ophthalmic parameters as biomarkers of HD is being discussed.
authors: Nizhny Novgorod State Medical Academy, Ministry of Health of the Russian Federation, 10/1 Minina Sq., Nizhny Novgorod, Russian Federation, 603005.
authors: S N
authors: SN
authors: Svetozarskiy
authors: Nizhny Novgorod State Medical Academy, Ministry of Health of the Russian Federation, 10/1 Minina Sq., Nizhny Novgorod, Russian Federation, 603005.
authors: S V
authors: SV
authors: Kopishinskaya
authors: Nizhny Novgorod State Medical Academy, Ministry of Health of the Russian Federation, 10/1 Minina Sq., Nizhny Novgorod, Russian Federation, 603005.
authors: A V
authors: AV
authors: Gustov
authors: Volgograd State Medical University, Ministry of Health of the Russian Federation, 1 Pavshikh Bortsov Sq., Volgograd, Russian Federation, 400131.
authors: M A
authors: MA
authors: Radyuk
authors: Nizhny Novgorod State Medical Academy, Ministry of Health of the Russian Federation, 10/1 Minina Sq., Nizhny Novgorod, Russian Federation, 603005.
authors: V A
authors: VA
authors: Antonova
authors: Nizhny Novgorod State Medical Academy, Ministry of Health of the Russian Federation, 10/1 Minina Sq., Nizhny Novgorod, Russian Federation, 603005.
authors: I G
authors: IG
authors: Smetankin
authors: Nizhny Novgorod State Medical Academy, Ministry of Health of the Russian Federation, 10/1 Minina Sq., Nizhny Novgorod, Russian Federation, 603005.
authors: S N
authors: SN
authors: Svetozarskiy
authors: Nizhny Novgorod State Medical Academy, Ministry of Health of the Russian Federation, 10/1 Minina Sq., Nizhny Novgorod, Russian Federation, 603005.
authors: S V
authors: SV
authors: Kopishinskaya
authors: Nizhny Novgorod State Medical Academy, Ministry of Health of the Russian Federation, 10/1 Minina Sq., Nizhny Novgorod, Russian Federation, 603005.
authors: A V
authors: AV
authors: Gustov
authors: Volgograd State Medical University, Ministry of Health of the Russian Federation, 1 Pavshikh Bortsov Sq., Volgograd, Russian Federation, 400131.
authors: M A
authors: MA
authors: Radyuk
authors: Nizhny Novgorod State Medical Academy, Ministry of Health of the Russian Federation, 10/1 Minina Sq., Nizhny Novgorod, Russian Federation, 603005.
authors: V A
authors: VA
authors: Antonova
authors: Nizhny Novgorod State Medical Academy, Ministry of Health of the Russian Federation, 10/1 Minina Sq., Nizhny Novgorod, Russian Federation, 603005.
authors: I G
authors: IG
authors: Smetankin
mesh_terms: D015350:Contrast Sensitivity / Q000502:physiology*; D005133:Eye Movements / Q000502:physiology*; D005403:Fixation, Ocular; D006801:Humans; D006816:Huntington Disease / Q000150:complications / Q000378:metabolism / Q000503:physiopathology; D015354:Vision, Low / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D014795:Visual Pathways / Q000503:physiopathology*