New advances in diagnostic techniques and gene therapy for choroideremia
10.3760/cma.j.cn511434-20220208-00071
- VernacularTitle:无脉络膜症诊断技术及基因治疗的新进展
- Author:
Jiangbo YAN
1
;
Yin SHEN
Author Information
1. 武汉大学人民医院眼科中心，武汉 430060
- Keywords:
Choroideremia;
Gene therapy;
Clinical trial;
Review
- From:
Chinese Journal of Ocular Fundus Diseases
2023;39(9):787-792
- CountryChina
- Language:Chinese
-
Abstract:
Choroideremia (CHM) is an X-linked recessive inherited retinal disease characterized by progressive degeneration of photoreceptors, retinal pigment epithelium and choroid. Clinical manifestations include slowly progressive night blindness and visual field defects, for which there is no effective treatment. The development of fundus examination technology has provided more indicators for clinical diagnosis and follow-up observation, and the emergence of next generation sequencing technology has further improved the diagnostic rate of inherited retinal diseases, gradually deepening the understanding of the pathogenesis and natural history of CHM. Numerous clinical trials of CHM gene therapy have been conducted over a decade, with important advances in vector optimization for gene therapy, treatment time window selection, and management of trial adverse events. In the future, there is a need to deepen the understanding of the natural course of CHM and to adopt personalized treatment and endpoint evaluation targets for the treatment time window. Assessing differences in disease severity and individualizing treatment plans for different stages is more beneficial to prognosis.
