The role of primary cilia in the development and disease of the retina
The role of primary cilia in the development and disease of the retina
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.
69-85
Wheway, Gabrielle
2e547e5d-b921-4243-a071-2208fd4cc090
Parry, David A.
9cf2eec9-6fef-481d-873b-e1d351ce1c17
Johnson, Colin A.
72a3c1ff-39c9-4c3d-a892-898e72fce52a
1 January 2014
Wheway, Gabrielle
2e547e5d-b921-4243-a071-2208fd4cc090
Parry, David A.
9cf2eec9-6fef-481d-873b-e1d351ce1c17
Johnson, Colin A.
72a3c1ff-39c9-4c3d-a892-898e72fce52a
Wheway, Gabrielle, Parry, David A. and Johnson, Colin A.
(2014)
The role of primary cilia in the development and disease of the retina.
Organogenesis, 10 (1), .
(doi:10.4161/org.26710).
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.
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Accepted/In Press date: 4 October 2013
e-pub ahead of print date: 25 October 2013
Published date: 1 January 2014
Identifiers
Local EPrints ID: 423517
URI: http://eprints.soton.ac.uk/id/eprint/423517
ISSN: 1547-6278
PURE UUID: 4a276fd1-90c7-417d-92bd-d1fea8b93d65
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Date deposited: 25 Sep 2018 16:30
Last modified: 16 Mar 2024 04:38
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Author:
David A. Parry
Author:
Colin A. Johnson
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