Vestibular Phenotype–Genotype Correlation in a Cohort of 35 European Usher Syndrome Patients

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This study makes a valuable contribution to the field of neuro-otology and genetic medicine by examining the genotype–phenotype correlations in Usher syndrome, a rare but clinically important condition. By rigorously comparing USH1, USH2, and USH4 subtypes across a battery of auditory and vestibular assessments, it provides new insights into how genetic background influences clinical presentation. One of the key strengths of the study is its comprehensive vestibular evaluation, including advanced tools like vHIT, VEMPs, and rotary chair testing, which are not routinely used in most genotype-phenotype studies. This approach enhances our understanding of vestibular dysfunction in USH and highlights USH1 as having the most severe audiovestibular impairment. Importantly, the research also addresses the functional and emotional burden of balance disorders, using patient-reported outcome measures like DHI, HADS, and ABC scales. This patient-centered perspective underscores the real-life impact of vestibular deficits, which are often overlooked in rare disease populations. The findings may inform: • Clinical decision-making, including early diagnosis and tailored rehabilitation strategies. • Genetic counseling, by providing prognostic expectations based on subtype. • Future research, particularly into cochlear implant outcomes and vestibular therapies in USH patients.

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