Abstract
OBJECTIVE: While the etiology of Meniere's disease (MD) is likely multifactorial, genetics are thought to play a role. Several previous studies have yielded inconclusive results, potentially due to phenotypic uncertainty and variable diagnostic criteria. To explore potential genetic bases in a more rigorous context, we assessed the clinical predictors and diagnostic yield of current hearing loss panels in a highly curated cohort of patients with bilateral and/or early-onset MD. STUDY DESIGN: Retrospective cohort study. SETTING: Multidisciplinary tertiary care hearing loss genetics clinic. METHODS: Data from clinical notes, audiograms, and genetic reports of adult patients diagnosed with bilateral and/or early-onset (<40 years) MD from October 2019 to June 2025 were analyzed with logistic regression and summary statistics to determine predictive factors and diagnostic yields of existing genetic panels. RESULTS: Of the 37 patients analyzed (mean age 47.7 + 14.5 years, 54% male), 24 (64.8%) had early-onset MD, 22 (59.5%) had bilateral MD, and 9 (24.3%) had both. Moderately severe to profound hearing loss prior to 65 was significantly associated with pathogenic or likely pathogenic variants (PLPV) (OR 8.98 [1.17, 101]; P = .046). No significant predictors were found for definitive diagnosis, plausible diagnosis, or negative panels. Eight (22%) patients had a PLPV detected on their hearing loss panel, with 0 definitive diagnoses, 3 (8.1%) plausible diagnoses (MYO15A, SLC17A8, P2RX2), and 6 (16%) completely negative panels. CONCLUSIONS: Current hearing loss panels show limited diagnostic utility for MD. Future research should prioritize whole genome sequencing to identify novel MD-associated loci and provide guidance to patients.