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Videoocular assessment of eye movement activity in an ataxia-telangiectasia: a case study
Sofia A Mironets1, Marina A Shurupova2,3,4, Alexander F Karelin1
1Neurocognitive Laboratory, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology, Moscow, Russia, 117997.
Purpose:
Ataxia-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.
Methods:
Three 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.
Results:
Unstable 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.
Conclusion:
Our study opens the prospect to evaluate efficacy and safety of alternative methods for supporting the patient and improving his/her life quality.
