title: Photoreceptor Cilia and Retinal Ciliopathies.
abstract: Photoreceptors are sensory neurons designed to convert light stimuli into neurological responses. This process, called phototransduction, takes place in the outer segments (OS) of rod and cone photoreceptors. OS are specialized sensory cilia, with analogous structures to those present in other nonmotile cilia. Deficient morphogenesis and/or dysfunction of photoreceptor sensory cilia (PSC) caused by mutations in a variety of photoreceptor-specific and common cilia genes can lead to inherited retinal degenerations (IRDs). IRDs can manifest as isolated retinal diseases or syndromic diseases. In this review, we describe the structure and composition of PSC and different forms of ciliopathies with retinal involvement. We review the genetics of the IRDs, which are monogenic disorders but genetically diverse with regard to causality.
authors.affiliation: Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114.
authors.forename: Kinga M
authors.initials: KM
authors.lastname: Bujakowska
authors.affiliation: Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114.
authors.forename: Qin
authors.initials: Q
authors.lastname: Liu
authors.affiliation: Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114.
authors.forename: Eric A
authors.initials: EA
authors.lastname: Pierce
mesh_terms: D000818:Animals; D002923:Cilia / Q000502:physiology*; D006801:Humans; D010786:Photoreceptor Cells / Q000502:physiology*; D021381:Protein Transport; D012160:Retina / Q000502:physiology*