Videoocular assessment of eye movement activity in an ataxia–telangiectasia: a case study

Авторы: Mironets S.A., Shurupova M.A., Karelin A.F.
Журнал: Documenta Ophthalmologica
Год издания: 2024
Издательство: Springer Nature
Местоположение издательства: Switzerland
Первая страница: 1
Последняя страница: 8
DOI: 10.1007/s10633-024-09964-z
Аннотация: PurposeAtaxia–telangiectasia (A–T) is an autosomal recessive disorder characterized by progressive neurological deficits, including prominent oculomotor dysfunction. We report 5 cases of eye movement assessment in children 9–15 years old with A–T.MethodsThree different oculomotor tasks (gaze holding, visually guided saccades and visual search) were used, and video-oculography was performed. Additionally, the scale for the assessment and rating of ataxia (SARA) score was used to assess severity of the cerebellar ataxia.ResultsUnstable gaze holding, nystagmus and saccadic intrusions were found. In addition to psychophysiological assessment results, we provide quantitative analysis of oculomotor activity, revealing a specific abnormal oculomotor pattern, consisting of (i) marked saccade hypermetria, (ii) unstable gaze holding, and (iii) gaze-evoked nystagmus.ConclusionOur study opens the prospect to evaluate efficacy and safety of alternative methods for supporting the patient and improving his/her life quality.
Добавил в систему: Шурупова Марина Алексеевна

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