Photoreceptor Cilia and Retinal Ciliopathies

Photoreceptors are sensory neurons designed to convert light stimuli into neurological responses. This process, called phototransduction, takes place in the outer segments (OS) of rod and cone photoreceptors. OS are specialized sensory cilia, with analogous structures to those present in other nonmo...

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Bibliographic Details
Published in:Cold Spring Harbor perspectives in biology 2017-10, Vol.9 (10), p.a028274
Main Authors: Bujakowska, Kinga M, Liu, Qin, Pierce, Eric A
Format: Article
Language:English
Subjects:
Animals
Cilia - physiology
Humans
PERSPECTIVES
Photoreceptor Cells - physiology
Protein Transport
Retina - physiology
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Summary:Photoreceptors are sensory neurons designed to convert light stimuli into neurological responses. This process, called phototransduction, takes place in the outer segments (OS) of rod and cone photoreceptors. OS are specialized sensory cilia, with analogous structures to those present in other nonmotile cilia. Deficient morphogenesis and/or dysfunction of photoreceptor sensory cilia (PSC) caused by mutations in a variety of photoreceptor-specific and common cilia genes can lead to inherited retinal degenerations (IRDs). IRDs can manifest as isolated retinal diseases or syndromic diseases. In this review, we describe the structure and composition of PSC and different forms of ciliopathies with retinal involvement. We review the genetics of the IRDs, which are monogenic disorders but genetically diverse with regard to causality.
ISSN:1943-0264
1943-0264
DOI:10.1101/cshperspect.a028274