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

Parry, David A.; Johnson, Colin A.; Wheway, Gabrielle; Parry, David A; Johnson, Colin A

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 multiorgan 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. © 2014 Landes Bioscience.

Citation

Parry, D. A., Johnson, C. A., Wheway, G., Parry, D. A., & Johnson, C. A. (2014). The role of primary cilia in the development and disease of the retina. Organogenesis, 10(1), 69-85. https://doi.org/10.4161/org.26710

• Journal Article Type: Review
• Acceptance Date: Oct 4, 2013
• Online Publication Date: Oct 25, 2013
• Publication Date: Jan 1, 2014
• Journal: Organogenesis
• Print ISSN: 1547-6278
• Electronic ISSN: 1555-8592
• Publisher: Taylor & Francis
• Peer Reviewed: Peer Reviewed
• Volume: 10
• Issue: 1
• Pages: 69-85
• DOI: https://doi.org/10.4161/org.26710
• Keywords: primary cilia, ciliopathy, inherted retinal conditions, photoreceptor development, retina, intraflagellar transport
• Public URL: https://uwe-repository.worktribe.com/output/827060
• Publisher URL: http://dx.doi.org/10.4161/org.26710