Duchenne muscular dystrophy (DMD) is caused by X-linked inherited or de novo DMD gene mutations predominantly affecting males who develop early-onset muscle degeneration, severely affecting their quality of life and leading to reduced life expectancy. DMD patients may also develop proliferative retinopathy, cataract, ERG abnormalities, altered contrast sensitivity, color vision losses, and elevated flash detection thresholds during dark adaptation. Depending on the position of the genetic alteration in the large DMD gene, it is associated with a lack of the full-length dystrophin protein possibly with an additional loss of one or several other dystrophins, which are normally transcribed from internal promoters in retina and crystalline lens. During the last decades, the properties of the dystrophins have been characterized in patients with different genetic alterations and in genetic mouse models of DMD. The complex expression pattern of the dystrophins in photoreceptors, Müller glial cells and astrocytes, likely influences synaptic transmission, ionic balance and vascular integrity of the retina. However, the specific function of each retinal dystrophin remains largely unknown. This review describes the current knowledge on dystrophin expression, the putative molecular, structural, and physiological properties of retinal dystrophins, and the main clinical implications associated with the loss of dystrophins in DMD patients and mouse models. Current data and working hypotheses warrant future research on retinal dystrophins to increase our understanding of dystrophin function in the central nervous system in general and to unveil new retinal mechanisms and therapeutic avenues for retinal diseases.

杜氏肌营养不良症 (DMD) 是由 X 连锁遗传性或新发 DMD基因突变引起的，主要影响男性，导致早发性肌肉变性，严重影响他们的生活质量并导致预期寿命缩短。DMD 患者还可能出现增殖性视网膜病变、白内障、ERG 异常、对比敏感度改变、色觉丧失以及暗适应过程中闪光检测阈值升高。取决于大DMD中基因改变的位置基因，它与全长肌营养不良蛋白的缺乏有关，可能还伴有一种或几种其他肌营养不良蛋白的额外损失，这些肌营养不良蛋白通常从视网膜和晶状体的内部启动子转录。在过去的几十年里，抗肌营养不良蛋白的特性已经在具有不同基因改变的患者和 DMD 遗传小鼠模型中得到了表征。光感受器、米勒神经胶质细胞和星形胶质细胞中抗肌营养不良蛋白的复杂表达模式可能会影响视网膜的突触传递、离子平衡和血管完整性。然而，每种视网膜肌营养不良蛋白的具体功能仍然很大程度上未知。这篇综述描述了目前关于抗肌营养不良蛋白表达的知识，以及视网膜抗肌营养不良蛋白的假定分子、结构和生理特性，以及与 DMD 患者和小鼠模型中抗肌营养不良蛋白丧失相关的主要临床意义。目前的数据和工作假设保证了未来对视网膜肌营养不良蛋白的研究，以增加我们对中枢神经系统中肌营养不良蛋白功能的了解，并揭示新的视网膜机制和视网膜疾病的治疗途径。