The role of primary cilia in the development and disease of the retina
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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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Ciliopathies can manifest as a non-syndromic disease involving a single organ system, or a pleiotropic disorder that affects multiple organ systems.
“Ciliopathies can manifest as a non-syndromic disease involving a single organ system, or a pleiotropic disorder that affects multiple organ systems89–91.”
From The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision (2022) · cites this paper as [91]
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Genes and molecular pathways underpinning ciliopathies
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Genetics and biology of primary ciliary dyskinesia
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Compartmentalization of Photoreceptor Sensory Cilia
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Characterization of Primary Cilia Formation in Human ESC-Derived Retinal Organoids
Ning, K., Luo, Z., Kowal, T. J., Tran, M., Majumder, R., Jarin, T. M., Wu, A. Y., Goldberg, J. L., & Sun, Y. (2023) · Stem Cells International · doi:10.1155/2023/6494486 · Cited by 10 · see citing works
- Authors
- Wheway, G., Parry, D. A., & Johnson, C. A.
- Affiliations
- University of Leeds (GB)
- Corresponding author
- Johnson, Colin A
- Venue
- Organogenesis
- Publisher
- Informa UK Limited
- Published
- 2013-10-25
- Volume
- 10
- Issue
- 1
- Pages
- 69-85
- ISSN
- 1547-6278 (ISSN-L)
- 1555-8592
- PMC
- PMC4049897
- 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
- bronze
- doi.org
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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