Unilateral enlarged vestibular aqueduct syndrome: clinical profiles, SLC26A4 mutations, and the diagnostic utility of the ASNR waveform

Unilateral enlarged vestibular aqueduct syndrome (EVAS) is a clinically insidious condition, and its aetiology and relationship to the common bilateral phenotype remain insufficiently characterised. Objectives: Explore the clinical and molecular genetic characteristics of unilateral EVAS to improve diagnostic accuracy and hearing loss prevention strategies.

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The ASNR waveform may serve as a useful adjunct diagnostic marker for unilateral EVAS, and SLC26A4 mutation profiling is relevant for genetic counseling; audiologists should note these findings but await larger replication studies before changing diagnostic protocols.

Characterizing unilateral EVAS more precisely — through genetic and electrophysiological markers — could improve early diagnosis and counseling for a potentially progressive and under-recognized cause of childhood hearing loss.

1. 01Study characterizes unilateral enlarged vestibular aqueduct syndrome (EVAS), a structural inner-ear anomaly causing hearing loss.
2. 02SLC26A4 gene mutations were assessed and profiled in this unilateral EVAS cohort.
3. 03The ASNR (auditory/electrophysiological) waveform was evaluated as a diagnostic tool.
4. 04Findings may improve early and accurate diagnosis of a condition often missed on one side.
5. 05Published in Acta Otolaryngologica.

PMID

42771488

DOI

10.1080/00016489.2026.2732282.

Journal

Acta Otolaryngologica

Publication type

research_article

Evidence level

4

Population

Patients with unilateral enlarged vestibular aqueduct syndrome

Intervention

ASNR waveform analysis and SLC26A4 mutation profiling