Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models
AJ Griffith, P Wangemann - Hearing research, 2011 - Elsevier
Enlargement of the vestibular aqueduct (EVA) is one of the most common inner ear
malformations associated with sensorineural hearing loss in children. The delayed onset
and progressive nature of this phenotype offer a window of opportunity to prevent or retard
progression of hearing loss. EVA is not the direct cause of hearing loss in these patients, but
rather is a radiologic marker for some underlying pathogenetic defect. Mutations of the
SLC26A4 gene are a common cause of EVA. Studies of an Slc26a4 knockout mouse …
malformations associated with sensorineural hearing loss in children. The delayed onset
and progressive nature of this phenotype offer a window of opportunity to prevent or retard
progression of hearing loss. EVA is not the direct cause of hearing loss in these patients, but
rather is a radiologic marker for some underlying pathogenetic defect. Mutations of the
SLC26A4 gene are a common cause of EVA. Studies of an Slc26a4 knockout mouse …