Characteristics of autosomal dominant retinal diseases and gene therapy strategies

Authors: Liu Yanbo, Pang Jijing
DOI: 10.3760/cma.j.cn115989-20210329-00215
Published 2021-08-10
Cite asChin J Exp Ophthalmol, 2021, 39(8): 755-760.

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.

Key words:

Inherited retinal diseases; Autosomal dominant inheritance; Pathogenesis; Clinical features; Treatment directions

Contributor Information

Liu Yanbo

Fujian Provincial Key Laboratory of Ophthalmology and Visual Science, Eye Institute of Xiamen University, School of Medicine, Xiamen University, Xiamen 361000, China

Pang Jijing

Xiamen University Affiliated Xiamen Eye Center, Xiamen 361000, China

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Updated: August 10, 2021 — 8:38 am