共病性听觉与视觉功能障碍：从致病基因到基因治疗

文献信息

中文摘要

背景： 听觉和视觉是最重要的感觉功能。遗传学研究已揭示，特定的基因突变可同时引起听觉和视觉功能障碍。共病性听觉和视觉损害限制了相互的感觉补偿，从而严重延迟受影响儿科患者的言语、认知和智力发育，并给其家庭带来沉重负担。方法：在这篇综述中，我们总结了目前公认与听觉和视觉损害均相关的23个基因，并根据其潜在致病机制对其进行分类。结果：此外，基因治疗的最新进展为遗传性听觉和视觉疾病的分子治疗创造了新机遇，而针对眼或内耳的局部基因治疗试验已显示出令人鼓舞的临床信号。然而，目前大多数方法仍为基因或器官特异性，且若干项目仍处于临床前或早期临床阶段。结论：因此，我们还总结了针对遗传性耳聋和失明的基因治疗及正在进行的临床试验项目的最新进展，旨在为共病性听觉和视觉功能障碍的后续治疗提供参考和依据。

英文摘要

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.