Caveolae, specialized plasma membrane invaginations present in most cell types, play important roles in multiple cellular processes including cell signaling, lipid uptake and metabolism, endocytosis and mechanotransduction. They are found in almost all cell types but most abundant in endothelial cells, adipocytes and fibroblasts. Caveolin-1 (Cav1), the signature structural protein of caveolae was the first protein associated with caveolae, and in association with Cavin1/PTRF is required for caveolae formation. Genetic ablation of either Cav1 or Cavin1/PTRF downregulates expression of the other resulting in loss of caveolae. Studies using Cav1-deficient mouse models have implicated caveolae with human diseases such as cardiomyopathies, lipodystrophies, diabetes and muscular dystrophies. While caveolins and caveolae are extensively studied in extra-ocular settings, their contributions to ocular function and disease pathogenesis are just beginning to be appreciated. Several putative caveolin/caveolae functions are relevant to the eye and Cav1 is highly expressed in retinal vascular and choroidal endothelium, Müller glia, the retinal pigment epithelium (RPE), and the Schlemm's canal endothelium and trabecular meshwork cells. Variants at the CAV1/2 gene locus are associated with risk of primary open angle glaucoma and the high risk HTRA1 variant for age-related macular degeneration is thought to exert its effect through regulation of Cav1 expression. Caveolins also play important roles in modulating retinal neuroinflammation and blood retinal barrier permeability. In this article, we describe the current state of caveolin/caveolae research in the context of ocular function and pathophysiology. Finally, we discuss new evidence showing that retinal Cav1 exists and functions outside caveolae.

小凹是大多数细胞类型中存在的特殊质膜内陷，在多种细胞过程中发挥着重要作用，包括细胞信号传导、脂质摄取和代谢、内吞作用和机械转导。它们几乎存在于所有细胞类型中，但在内皮细胞、脂肪细胞和成纤维细胞中含量最多。 Caveolin-1 (Cav1) 是小窝的标志性结构蛋白，是第一个与小窝相关的蛋白质，并且与 Cavin1/PTRF 结合是小窝形成所必需的。 Cav1 或 Cavin1/PTRF 的基因消融会下调另一个的表达，导致小凹消失。使用 Cav1 缺陷小鼠模型进行的研究表明，小凹与心肌病、脂肪营养不良、糖尿病和肌肉营养不良等人类疾病有关。虽然小窝和小凹在眼外环境中得到了广泛的研究，但它们对眼功能和疾病发病机制的贡献才刚刚开始受到重视。几种假定的小窝功能与眼睛相关，Cav1 在视网膜血管和脉络膜内皮、Müller 胶质细胞、视网膜色素上皮 (RPE) 以及施累姆氏管内皮和小梁网细胞中高度表达。 CAV1/2 基因位点的变异与原发性开角型青光眼的风险相关，而年龄相关性黄斑变性的高风险 HTRA1 变异被认为是通过调节 Cav1 表达发挥其作用。小窝蛋白还在调节视网膜神经炎症和血视网膜屏障通透性方面发挥重要作用。在本文中，我们描述了眼功能和病理生理学背景下小凹/小凹研究的现状。 最后，我们讨论了新的证据，表明视网膜 Cav1 在小窝外存在并发挥作用。