Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents

The phenotypic expressions associated with the EVA clinical profile are heterogeneous. From the available data, it was not possible to identify a representative audiological profile, in any of the three sub-groups. The data suggest that: (i) a later onset of hearing loss is usually related to EVA, in absence of SLC26A4 gene mutations; and (ii) hearing loss is more severe in patients with SLC26A4 gene mutations (groups 2 and 3 of this study).