Videoocular Assessment of Eye Movement Activity in an Ataxia Telangiectasia

Federal Research Institute of Pediatric Hematology, Oncology and Immunology

Status: Completed

Conditions: Dysmetria; Ataxia Telangiectasia

Study type: Observational

Funder types: Other

Identifiers

NCT05471310

LB_03/17/22

Details and patient eligibility

About

Ataxia-telangiectasia (A-T) is a multisystem auto-somal recessive disorder linked to the A-T mutated gene (ATM) on chromosome 11q22-23, and characterized by progressive neural degeneration, immunodeficiency, and progressive ocular motor dysfunction. In previous studies, the quantitative description of the ocular motor deficits from clinical examination was limited to various defects in saccade and gaze control, dysmetric saccades, impairments of smooth pursuit, gaze holding, convergence, vestibular and optokinetic nystagmus slow phases, and cancellation of the vestibulo-ocular reflex. The aim of our research is to add existing findings with quantitative description of oculomotor patterns in A-T patients using videooculography (VOG).

Enrollment: 5 patients

Sex: All

Ages: 8 to 17 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• confirmed diagnosis of ataxia telangiectasia,
• informed consent,
• stay at the Clinical Research Rehabilitation Center "Russkoe Pole" for 14 days.

Exclusion criteria

• epilepsy,
• poor visual acuity, inability to percept from a computer monitor,
• inability to hold head and posture satisfactory to perform the tasks,
• difficulty to obtain adequate recordings due to corrective lenses,
• visual field defects.