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Photoreceptor Cilia and Retinal Ciliopathies
Kinga M Bujakowska1, Qin Liu1, Eric A Pierce1
1Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114.
Cold Spring Harbor Perspectives in Biology
|March 15, 2017
Summary
Photoreceptor sensory cilia (PSC) are crucial for vision. Mutations in genes affecting PSC structure and function cause inherited retinal degenerations (IRDs), a diverse group of genetic eye diseases.
Area of Science:
- Ophthalmology
- Cell Biology
- Genetics
Background:
- Photoreceptors convert light into neural signals via phototransduction in their outer segments (OS).
- Outer segments are specialized nonmotile cilia.
- Defects in photoreceptor sensory cilia (PSC) lead to inherited retinal degenerations (IRDs).
Purpose of the Study:
- To review the structure and composition of photoreceptor sensory cilia (PSC).
- To discuss ciliopathies with retinal involvement.
- To summarize the genetic basis of inherited retinal degenerations (IRDs).
Main Methods:
- Literature review of photoreceptor structure and function.
- Analysis of genetic mutations causing IRDs.
- Compilation of data on ciliopathies affecting the retina.
Main Results:
- Photoreceptor outer segments are complex sensory cilia.
- Mutations in photoreceptor-specific and common cilia genes cause IRDs.
- IRDs represent a genetically diverse group of monogenic disorders.
Conclusions:
- Understanding PSC structure and genetics is key to understanding IRDs.
- Ciliopathies are a significant cause of inherited retinal diseases.
- Genetic diversity in IRDs necessitates comprehensive diagnostic approaches.
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