ABSTRACT
Cilia are evolutionary conserved structures protruding from the surface of almost every cell type. Initially motile cilia got all the attentions, while primary cilia were presumed to be vestigial organs. In the last few decades, it has come to light that these solitary, non-motile, microtubule rich structures are indispensable for development and sensory functions. Perturbation in the structure or function of cilia cause an array of related diseases, commonly termed ciliopathies. The most common ciliopathy phenotype is retinal degeneration, which is largely attributed to defects of the retinal photoreceptor, which contains a highly modified primary cilium. This chapter discusses the role of cilia in the development, function, and maintenance of the eye and how cilia defects affect visual function. Research into the sensory role of the photoreceptor outer segment, a modified cilium, has exploded over the past decades. The biogenesis of retinal primary cilium, ciliary gene mutations causing retinal degenerations and functional insights from respective animal models have been extensively discussed. This chapter also discusses the role of primary cilia and ciliary signaling in other ocular cells, and highlights how these findings brings about insights into disease mechanisms and theraupeutics.
