[关键词]
[摘要]
近视已成为重要的眼健康问题，其发生是遗传与环境因素复杂相互作用的结果。文章聚焦于由光感受器基因突变引起的两类遗传性视网膜疾病——视杆-视锥细胞营养不良(视网膜色素变性)与视锥细胞功能障碍综合征(全色盲、蓝锥细胞单色视和Bornholm眼病)，系统探讨其与近视表型的内在联系，重点阐述了致病基因RPGR、OPN1LW/OPN1MW等突变，通过导致纤毛结构与蛋白运输障碍和干扰视觉信号通路等核心机制，共同诱发脉络膜变薄与巩膜重塑，最终驱动眼轴延长和近视发生。文章通过梳理光感受器基因突变与近视之间的关联，为深入理解近视的遗传机制提供了新视角，对早期风险预警及靶向干预策略的开发具有重要意义。
[Key word]
[Abstract]
Myopia has become a significant eye health problem, which is thought to result from the complex interactions of genetic and environmental factors. This review focuses on two types of hereditary retinal diseases caused by mutations in photoreceptor genes, including rod-cone cell dystrophy(retinitis pigmentosa)and cone dysfunction syndromes(achromatopsia, blue cone monochromatism and Bornholm eye disease). It systematically explores the intrinsic connection between these diseases and the myopia phenotype, and elaborates on the core mechanisms by which pathogenic genes such as RPGR and OPN1LW/OPN1MW, which cause defects in ciliary structure and protein transport and interfere with the visual signal pathway, jointly induce choroidal thinning and scleral remodeling, ultimately driving the elongation of axial length and the occurrence of myopia. By tracing the association of photoreceptor gene mutations with myopia, this article provides a new perspective for in-depth understanding of the genetic mechanism of myopia and is of great significance for the development of early risk warning and targeted intervention strategies.
[中图分类号]
[基金项目]
广东省基础与应用基础研究基金项目(No.2022A1515012346); 南方医科大学珠江医院院长基金项目(No.yzjj2023qn37)
