Research status of ciliary dysfunction and visual development related diseases
10.3760/cma.j.cn511434-20190213-00044
- VernacularTitle:纤毛功能障碍与视觉发育相关疾病的关系研究现状
- Author:
Yuelan FENG
1
;
Ningdong LI
Author Information
1. 内蒙古科技大学包头医学院第一附属医院眼科 014010
- From:
Chinese Journal of Ocular Fundus Diseases
2020;36(8):652-656
- CountryChina
- Language:Chinese
-
Abstract:
Cilia are hair-like protuberance on cells of the human body that play a vital role in organs generation and maintenance. Abnormalities of ciliary structure and function affect almost every system of the body, such as the brain, eyes, liver, kidney, bone, reproductive system and so on. Retinal photoreceptor cells are one of sensory neurons which 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, and disruptions in cilia genes, which are causative in a growing number of non-syndromic retinal dystrophies, such as retinitis pigmentosa, Leber’s congenital amaurosis. These syndromes are genetically heterogeneous, involving mutations in a large number of genes. They show considerable clinical and genetic overlap. At present, there are few researches on retinal ciliopathies and clinical treatment strategy. This review shows a comprehensive overview of ciliary dysfunction and visual development related diseases, which contributes to understand the characteristics of these diseases and take early intervention in clinic.
