Research progress of molecular diagnosis and treatment strategies for RCBTB1 gene-related inherited retinal disease
10.3760/cma.j.cn511434-20230921-00394
- VernacularTitle:RCBTB1基因相关遗传性视网膜病变的分子诊断与治疗策略的研究进展
- Author:
Zhiqin HUANG
1
;
Zibing JIN
Author Information
1. 北京市眼科研究所 北京同仁眼科中心 首都医科大学附属北京同仁医院 北京市眼科学与视觉科学重点实验室，北京 100730
- Keywords:
RCBTB1;
Inherited retinal disease;
Induced pluripotent stem cells;
Retinal pigment epithelium;
Mitochondrial function;
Review
- From:
Chinese Journal of Ocular Fundus Diseases
2024;40(6):472-477
- CountryChina
- Language:Chinese
-
Abstract:
RCBTB1 gene associated hereditary retinopathy is an extremely rare inherited retinal disease (IRD) discovered recently. The mutation of RCBTB1 gene can lead to a variety of IRD clinical phenotypes, such as early retinitis pigmentosa and delayed chorioretinal atrophy. The hereditary mode of RCBTB1 gene associated retinopathy is autosomal recessive. RCBTB1 gene plays an important role in maintaining mitochondrial function and anti-oxidative stress defense mechanism of retinal pigment epithelium cells. In the future, it is necessary to further determine whether there is a genotypic and phenotypic correlation in the age of onset of RCBTB1 gene associated retinopathy or multi-organ involvement, and evaluate the safety and efficacy of adeno-associated virus-mediated RCBTB1 gene replacement therapy in animal models, to explore the feasibility of gene replacement therapy and stem cell therapy.
