Cilia are hair-like projections found on almost all cells in the human body. Originally believed to function merely in motility, the function of solitary non-motile (primary) cilia was long overlooked. Recent research has demonstrated that primary cilia function as signalling hubs that sense environmental cues and are pivotal for organ development and function, tissue hoemoestasis, and maintenance of human health. Cilia share a common anatomy and their diverse functional features are achieved by evolutionarily conserved functional modules, organized into sub-compartments. Defects in these functional modules are responsible for a rapidly growing list of human diseases collectively termed ciliopathies. Ocular pathogenesis is common in virtually all classes of syndromic ciliopathies, and disruptions in cilia genes have been found to be causative in a growing number of non-syndromic retinal dystrophies.

This review will address what is currently known about cilia contribution to visual function. We will focus on the molecular and cellular functions of ciliary proteins and their role in the photoreceptor sensory cilia and their visual phenotypes. We also highlight other ciliated cell types in tissues of the eye (e.g. lens, RPE and Müller glia cells) discussing their possible contribution to disease progression. Progress in basic research on the cilia function in the eye is paving the way for therapeutic options for retinal ciliopathies. In the final section we describe the latest advancements in gene therapy, read-through of non-sense mutations and stem cell therapy, all being adopted to treat cilia dysfunction in the retina.

纤毛是在人体内几乎所有细胞上发现的类似头发的突起。最初被认为仅在运动中起作用，长期以来人们一直忽略单独的非运动性（原发性）纤毛的功能。最近的研究表明，初级纤毛起着感知环境线索的信号枢纽的作用，对于器官发育和功能，组织止血和维持人类健康至关重要。纤毛具有共同的解剖结构，其多样的功能特征是通过将进化保守的功能模块组织成子小室而实现的。这些功能模块的缺陷是导致人类疾病迅速增加的原因，这些疾病统称为纤毛病。眼部发病机制在所有类型的症状性纤毛病中都很常见，

这项审查将解决目前有关纤毛对视觉功能的贡献的已知信息。我们将重点研究纤毛蛋白的分子和细胞功能，以及它们在感光感受器纤毛及其视觉表型中的作用。我们还重点介绍了眼睛组织中的其他纤毛细胞类型（例如晶状体，RPE和Müller胶质细胞），讨论了它们对疾病进展的可能贡献。眼纤毛功能基础研究的进展为视网膜纤毛病的治疗选择铺平了道路。在最后一节中，我们描述了基因治疗，无意义突变的通读和干细胞治疗的最新进展，所有这些都被用于治疗视网膜中的纤毛功能障碍。