Saratov JOURNAL of Medical and Scientific Research

Oculomotor abnormalities in Huntington's disease patients and premanifest gene carriers

Year: 2018, volume 14 Issue: №4 Pages: 922-928
Heading: Ophtalmology Article type: Original article
Authors: Svetozarskiy S.N., Kopishinskaya S.V., Smetankin I.G.
Organization: Privolzhskiy Research Medical University, Volga District Medical Center of FMBA

Purpose: to establish oculomotor features in manifest Huntington's disease (HD) patients and premanifest gene carriers compared with controls. Material and Methods. The study involved 23 manifest HD patients, 21 premanifest gene carriers and 31 healthy volunteers. Binocular vision was evaluated using the four-point test. Direct and indirect pupil light reaction, convergence and accommodation response, head position, eye mobility and deviation were assessed. Slow eye movements, saccades and convergence were assessed. The criterion for clinical convergence insufficiency was defined as the near point of convergence of more than 5 cm. Patients from the target groups underwent DNA testing with an estimation of the CAG-repeats (cytosine-adenine-guanine) length in the huntingtin gene, an examination on the UHDRS motor scale (Unified Huntington's Disease Rating Scale) and had the duration of their disease determined. Results. The study showed that slow eye movements, initiation, speed and volume of saccades are disturbed in more than a half of manifest HD group. A high frequency (33%) of vertical slow eye movements disturbances was revealed in the premanifest HD group. Convergence insufficiency was found in manifest patients and HD carriers significantly more often than in the control group (p<0.001). Convergent eye movements were interrupted by uncontrolled saccades in 35% of manifest patients. A positive correlation was found between the distance to the near point of convergence and the UHDRS motor score, as well as with the number of CAG repeats. Conclusion. The study added new insights to the well-known picture of oculomotor disturbances in manifest HD patients, especially considering convergence characteristic. The leading symptoms of oculomotor abnormalities in premanifest HD carriers were identified. To designate the discussed complex of symptoms, a descriptive term "hyperkinetic oculomotor disorder" was proposed.

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