Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114.
Cold Spring Harb Perspect Biol. 2017 Oct 3;9(10):a028274. doi: 10.1101/cshperspect.a028274.
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.
感光器是专门设计用来将光刺激转化为神经反应的感觉神经元。这个过程被称为光转导，发生在视杆和视锥感光器的外节（OS）中。OS 是专门的感觉纤毛，其结构与其他非运动纤毛中的结构类似。由各种感光器特异性和常见纤毛基因的突变引起的感光器感觉纤毛（PSC）的形态发生缺陷和/或功能障碍可导致遗传性视网膜变性（IRDs）。IRDs 可以表现为孤立的视网膜疾病或综合征性疾病。在这篇综述中，我们描述了 PSC 的结构和组成，以及涉及视网膜的不同形式的纤毛病。我们回顾了 IRDs 的遗传学，IRDs 是单基因疾病，但在因果关系方面具有遗传多样性。
