Rhegmatogenous retinal detachment (RRD) is a sight threatening condition that warrants immediate surgical intervention. To date, 29 genes have been associated with monogenic disorders involving RRD. In addition, RRD can occur as a multifactorial disease through a combined effect of multiple genetic variants and non-genetic risk factors. In this review, we provide a comprehensive overview of the spectrum of hereditary disorders involving RRD. We discuss genotype-phenotype correlations of these monogenic disorders, and describe genetic variants associated with RRD through multifactorial inheritance. Furthermore, we evaluate our current understanding of the molecular disease mechanisms of RRD-associated genetic variants on collagen proteins, proteoglycan versican, and the TGF-β pathway. Finally, we review the role of genetics in patient management and prevention of RRD. We provide recommendations for genetic testing and prophylaxis of at-risk patients, and hypothesize on novel therapeutic approaches beyond surgical intervention.

孔源性视网膜脱离（RRD）是一种威胁视力的疾病，需要立即进行手术干预。迄今为止，已有 29 个基因与涉及 RRD 的单基因疾病相关。此外，RRD 可能是一种多因素疾病，是多种遗传变异和非遗传危险因素共同作用的结果。在这篇综述中，我们对涉及 RRD 的遗传性疾病谱进行了全面概述。我们讨论这些单基因疾病的基因型-表型相关性，并通过多因素遗传描述与 RRD 相关的遗传变异。此外，我们评估了目前对胶原蛋白、蛋白聚糖多功能蛋白聚糖和 TGF-β 通路上 RRD 相关遗传变异的分子疾病机制的理解。最后，我们回顾了遗传学在患者管理和预防 RRD 中的作用。我们为高危患者的基因检测和预防提供建议，并假设手术干预之外的新治疗方法。