Cited by 152Genetic and Kidney Cyst DiseasesRetinal Development and DisordersCystic Fibrosis Research Advances

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

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Wheway, Gabrielle, Parry, David A, Johnson, Colin A·2014·Organogenesis

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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Crossref · 10.4161/org.26710

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238 of 238 references verified0 citation errors · 0 not checkable

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Authors
Wheway, G., Parry, D. A., & Johnson, C. A.
Affiliations
University of Leeds (GB)
Corresponding author
Johnson, Colin A
Venue
Organogenesis
Published
2013-10-25
Volume
10
Issue
1
Pages
69-85
ISSN
  • 1547-6278 (ISSN-L)
  • 1555-8592
OpenAlex
W2002897570
Cited by
152
References
238
Citations by year
2025: 8 · 2024: 15 · 2023: 21 · 2022: 11 · 2021: 12 · 2020: 17 · 2019: 16 · 2018: 13 · 2017: 11 · 2016: 5 · 2015: 8 · 2014: 14 · 2013: 1
FWCI
1.15
Type
journal article
Language
en
Open access
Locations
  • Organogenesis (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • ePrints Soton (University of Southampton) (submittedVersion)
  • UWE Research Repository (UWE Bristol) (submittedVersion, cc-by)
  • UWE Research Repository (UWE Bristol) (submittedVersion)
Funders
Medical Research Council (MR/K011154/1)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
Keywords
primary cilia, photoreceptors, photoreceptor outer segments, ciliopathies, inherited retinal disease, retinal degeneration, retinal development, disease mechanisms
MeSH terms
Cilia, Humans, Photoreceptor Cells, Retina, Retinal Diseases

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