The role of primary cilia in the development and disease of the retina - PubMed (original) (raw)

Review

. 2014 Jan 1;10(1):69-85.

doi: 10.4161/org.26710. Epub 2013 Oct 25.

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Review

The role of primary cilia in the development and disease of the retina

Gabrielle Wheway et al. Organogenesis. 2014.

Abstract

The normal development and function of photoreceptors is essential for eye health and visual acuity in vertebrates. Mutations in genes encoding proteins involved in photoreceptor development and function are associated with a suite of inherited retinal dystrophies, often as part of complex multi-organ syndromic conditions. In this review, we focus on the role of the photoreceptor outer segment, a highly modified and specialized primary cilium, in retinal health and disease. We discuss the many defects in the structure and function of the photoreceptor primary cilium that can cause a class of inherited conditions known as ciliopathies, often characterized by retinal dystrophy and degeneration, and highlight the recent insights into disease mechanisms.

Keywords: ciliopathy; inherted retinal conditions; intraflagellar transport; photoreceptor development; primary cilia; retina.

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Figure 1. Schematic representation of a rod photoreceptor cell and localization of ciliary proteins.

(A) The schematic represents the rod photoreceptor cell outer segment, connecting cilium, inner segment, outer fiber, cell body, inner fiber and synaptic terminus. A number of key components of the ciliary apparatus are color coded and indicated. The IFT complex A (blue) and complex B (red) are represented in the magnified inset. A retinal pigmentary epithelial (RPE) cell is shown in gray at the top. (B) Confocal microscopy images of an immunofluorescent stained P20 mouse retinal cryosection showing the stratified layers of the retina. Cilium transition zone and basal body protein MKS1 is stained in green, and a novel interactant of MKS1, RNF34, is stained in red. These proteins localize to the base of the connecting cilium, as shown by the arrowheads in the enlarged insets. (C) Confocal microscopy image of a human adult retinal pigment epithelium (ARPE19) cell overexpressing enhanced-GFP-tagged lebercilin and immunostained with an antibody against acetylated α tubulin, which marks the axoneme of the cilium. Lebercilin can be seen in a punctuate pattern along the axoneme. Scale bar = 10μm.

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