Limited Utility of Existing Hearing Loss Panels in the Assessment of Early-Onset, Bilateral Meniere's Disease.

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.