Review Article

Targeting the photoreceptor cilium for the treatment of retinal diseases

Jie Ran1, Jun Zhou1,2
1 Institute of Biomedical Sciences, Shandong Provincial Key Laboratory of Animal Resistance Biology, Collaborative Innovation Center of Cell Biology in Universities of Shandong, College of Life Sciences, Shandong Normal University, Ji-nan 250014, China
2 State Key Laboratory of Medicinal Chemical Biology, College of Life Sciences, Nankai University, Tianjin 300071, China
Correspondence to: Jie Ran: jran@sdnu.edu.cn, Jun Zhou: junzhou@sdnu.edu.cn,
DOI: 10.1038/s41401-020-0486-3
Received: 23 April 2020
Accepted: 28 June 2020
Advance online: 4 August 2020

Abstract

Photoreceptors, as polarised sensory neurons, are essential for light sensation and phototransduction, which are highly dependent on the photoreceptor cilium. Structural defects and/or dysfunction of the photoreceptor cilium caused by mutations in photoreceptor- specific genes or common ciliary genes can lead to retinal diseases, including syndromic and nonsyndromic diseases. In this review, we describe the structure and function of the photoreceptor cilium. We also discuss recent findings that underscore the dysregulation of the photoreceptor cilium in various retinal diseases and the therapeutic potential of targeting ciliary genes in these diseases.
Keywords: retina; photoreceptor cilium; retinal disease; ciliopathy; gene therapy; genome editing technology; stem cell-based therapy; HDAC6 inhibitor

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