Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.
Data availability statement
Data sharing not applicable as no datasets generated and/or analysed for this study.
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Contributors TACdG, EA, AFS and MG reviewed the literature, drafted the manuscript and provided critical revision. MM conceived, supervised and revised the manuscript.
Funding Supported by grants from The Wellcome Trust (099173/Z/12/Z).
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.