Vestibular Profile of Patients with Hearing Loss Caused by Pathogenic Variants of the

Introduction: The second most frequent cause of autosomal recessive nonsyndromic sensorineural hearing loss (AR-NSHL) worldwide is a biallelic pathogenic alteration of the Methods: Eight AR-NSHL patients, aged 6-37 (mean age ± standard error of the mean [SEM] 16.13 ± 8.67), underwent standard audiological testing and otoneurologic investigation, including videonystagmography (VNG) with caloric stimulation, video head-impulse test (vHIT), and cervical vestibular evoked myogenic potentials (c-VEMPs). Subjects were divided into three groups (group 1, 2, and 3) according to the type of diagnosed Results: The grade of the hearing loss was calculated as pure tone average (PTA) (mean PTA ± SEM 41.88 dB ± 5.49). The vHIT displayed nearly normal bilateral gain and mostly the absence of saccades in all examined groups. Cervical VEMPs in response to air-conducted and bone-conducted stimuli showed prolonged latencies of waves P1 and N1 bilaterally in group 1, although latencies in groups 2 and 3 were within normal range. The results of VNG indicated normal vestibular and central oculomotor function. Conclusions: Biallelic pathogenic variants in the