Inherited mutations in the rod visual pigment, rhodopsin, cause the degenerative blinding condition, retinitis pigmentosa (RP). Over 150 different mutations in rhodopsin have been identified and, collectively, they are the most common cause of autosomal dominant RP (adRP). Mutations in rhodopsin are also associated with dominant congenital stationary night blindness (adCSNB) and, less frequently, recessive RP (arRP). Recessive RP is usually associated with loss of rhodopsin function, whereas the dominant conditions are a consequence of gain of function and/or dominant negative activity. The in-depth characterisation of many rhodopsin mutations has revealed that there are distinct consequences on the protein structure and function associated with different mutations. Here we categorise rhodopsin mutations into seven discrete classes; with defects ranging from misfolding and disruption of proteostasis, through mislocalisation and disrupted intracellular traffic to instability and altered function. Rhodopsin adRP offers a unique paradigm to understand how disturbances in photoreceptor homeostasis can lead to neuronal cell death. Furthermore, a wide range of therapies have been tested in rhodopsin RP, from gene therapy and gene editing to pharmacological interventions. The understanding of the disease mechanisms associated with rhodopsin RP and the development of targeted therapies offer the potential of treatment for this currently untreatable neurodegeneration.

视杆细胞视色素（视紫质）中的遗传突变会导致退行性致盲状况，即色素性视网膜炎 (RP)。已经确定了超过 150 种不同的视紫质突变，它们是常染色体显性遗传 RP (adRP) 的最常见原因。视紫红质的突变还与显性先天性静止性夜盲症 (adCSNB) 以及较少见的隐性 RP (arRP) 相关。隐性 RP 通常与视紫质功能丧失有关，而显性条件是功能获得和/或显性负活动的结果。许多视紫红质突变的深入表征表明，对与不同突变相关的蛋白质结构和功能有不同的影响。在这里，我们将视紫红质突变分为七个离散类别；缺陷范围从错误折叠和蛋白质稳态破坏，到错误定位和细胞内交通中断，再到不稳定和功能改变。视紫红质 adRP 提供了一种独特的范例来了解光感受器稳态的紊乱如何导致神经元细胞死亡。此外，已经在视紫红质 RP 中测试了广泛的疗法，从基因疗法和基因编辑到药理学干预。对与视紫质 RP 相关的疾病机制的了解和靶向疗法的开发为目前无法治疗的神经变性提供了治疗潜力。视紫红质 adRP 提供了一种独特的范例来了解光感受器稳态的紊乱如何导致神经元细胞死亡。此外，已经在视紫红质 RP 中测试了广泛的疗法，从基因疗法和基因编辑到药理学干预。对与视紫质 RP 相关的疾病机制的了解和靶向疗法的开发为目前无法治疗的神经变性提供了治疗潜力。视紫红质 adRP 提供了一种独特的范例来了解光感受器稳态的紊乱如何导致神经元细胞死亡。此外，已经在视紫红质 RP 中测试了广泛的疗法，从基因疗法和基因编辑到药理学干预。对与视紫质 RP 相关的疾病机制的了解和靶向疗法的开发为目前无法治疗的神经变性提供了治疗潜力。