Characteristics of autosomal dominant retinal diseases and gene therapy strategies
10.3760/cma.j.cn115989-20210329-00215
- VernacularTitle:视网膜常染色体显性遗传病的特点及基因治疗策略
- Author:
Yanbo LIU
1
;
Jijing PANG
Author Information
1. 厦门大学医学院 厦门大学眼科研究所 福建省眼科与视光科学重点实验室 361000
- Keywords:
Inherited retinal diseases;
Autosomal dominant inheritance;
Pathogenesis;
Clinical features;
Treatment directions
- From:
Chinese Journal of Experimental Ophthalmology
2021;39(8):755-760
- CountryChina
- Language:Chinese
-
Abstract:
Inherited retinal diseases (IRDs), one type of the major eye diseases resulting in blindness, can be caused by more than 270 identified causative genes.The most common form of IRDs is retinitis pigmentosa.There is no generally accepted cure for vision impairment due to IRDs.In recent years, the first gene replacement therapy has been approved for the treatment of autosomal recessive IRDs.Because of the variety of pathogenesis, including gain-of-function and dominant-negative effects in addition to a few loss-of-function mutations, gene replacement therapy of autosomal dominant IRDs is not always effective.The clinical manifestations of autosomal dominant IRDs are extremely complex, and there is no appropriate treatment in clinical practice.The latest progresses in pathogenesis, clinical features, treatment strategies and directions of autosomal dominant IRDs globally were reviewed, and the most common genes causing autosomal dominant IRDs were summarized in this article in order to provide a deeper understanding of autosomal dominant IRDs.
