Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2

Autor: Ana Margarida Amorim, Ana Beatriz Ramada, Ana Cristina Lopes, Eduardo Duarte Silva, João Lemos, João Carlos Ribeiro
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Druh dokumentu: article
ISSN: 2045-2322
DOI: 10.1038/s41598-024-54270-y
Popis: Abstract Usher Syndrome classification takes into account the absence of vestibular function but its correlation with genotype is not well characterized. We intend to investigate whether video Head Impulse Test (vHIT) is useful in screening and to differentiate Usher Syndrome types. 29 Usher patients (USH) with a genetically confirmed diagnosis and 30 healthy controls were studied with vHIT and dizziness handicap inventory questionnaire (DHI). Statistical significant differences between USH1, USH2 and controls were found in the vestibulo-ocular-reflex (VOR) gain of all SCCs, with USH1 patients consistently presenting smaller gains. VOR gain of the right lateral SCC could discriminate controls from USH1, and USH2 from USH1 with an overall diagnostic accuracy of 90%. USH1 DHI correlated with VOR (ρ = − 0,971, p = 0.001). Occurrence rate of covert and overt lateral semicircular canals refixation saccades (RS) was significantly different between groups, being higher in USH1 patients (p
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