Photoreceptor Cilia and Retinal Ciliopathies

被引：136

作者：

Bujakowska, Kinga M. ^{[1
]}

Liu, Qin ^{[1
]}

Pierce, Eric A. ^{[1
]}

机构：

[1] Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02114 USA

来源：

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY | 2017年 / 9卷 / 10期

关键词：

BARDET-BIEDL-SYNDROME; RECESSIVE RETINITIS-PIGMENTOSA; LEBER CONGENITAL AMAUROSIS; MECKEL-GRUBER-SYNDROME; CAUSE JOUBERT-SYNDROME; CGMP-GATED CHANNEL; ASPHYXIATING THORACIC DYSTROPHY; HETEROZYGOUS MISSENSE MUTATION; LIGHT-DRIVEN TRANSLOCATION; NUCLEOTIDE-EXCHANGE FACTOR;

D O I：

10.1101/cshperspect.a028274

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

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