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

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


Colin A. Johnson

David A. Parry

David A Parry

Colin A Johnson


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.

Journal Article Type Review
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
APA6 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.
Keywords primary cilia, ciliopathy, inherted retinal conditions, photoreceptor development, retina, intraflagellar transport
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