Comorbid Auditory and Visual Dysfunction: From Pathogenic Genes to Gene Therapy

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Abstract
Hearing and vision are the most important sensory functions. Genetic studies have revealed that specific genetic mutations can concurrently induce auditory and visual dysfunction. Comorbid auditory and visual impairment limits mutual sensory compensation, thereby severely delaying speech, cognitive, and intellectual development in affected pediatric patients and imposing a profound burden on their families. In this review, we summarize 23 genes currently recognized to be associated with both auditory and visual impairment and classify them according to their underlying pathogenic mechanisms. Furthermore, recent advances in gene therapy have created new opportunities for the molecular treatment of inherited auditory and visual disorders, while local gene therapy trials targeting the eye or inner ear have shown encouraging clinical signals. However, most current approaches remain gene- or organ-specific, and several programs are still at the preclinical or early clinical stage. Therefore, we also summarize the latest progress of gene-based therapies and ongoing clinical trial programs targeting hereditary deafness and blindness, aiming to provide references and basis for the subsequent treatment of comorbid auditory and visual dysfunctions.
Funding Information
  • National Key Research and Development Program of China (2024YFC2511100/2024YFC2511101)
  • National Key Research and Development Program of China (2021YFF0702303)
  • National Key Research and Development Program of China (2021YFF0702301)
  • National Natural Science Foundation of China (82430035)
  • Ministry of Education of the People's Republic of China (2024BRA019)
  • China Postdoctoral Science Foundation (2025M782010)
  • Shanghai Jiao Tong University (gect-2025-Z12)

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