You Position: Home > Paper

Interpretation of Expert consensus on diagnosis and treatment of choroideremia (2024)

( views:3, downloads:0 )
Author:
No author available
Journal Title:
Chinese Journal of Ocular Fundus Diseases
Issue:
7
DOI:
10.3760/cma.j.cn511434-20240611-00228
Key Word:
无脉络膜症;CHM基因变异 ;遗传性眼病;共识解读;Choroideremia;CHM gene variants ;Inherited ocular diseases;Interpretation of expert consensus

Abstract: Choroideremia (CHM) is a rare inherited eye disease that leads to blindness. It is caused by pathogenic variants in the CHM gene and exhibits X-linked recessive inheritance. Affected males present with progressively worsening night blindness, visual field loss, and decreased central vision, which can cause blindness in middle age. Although female carriers typically exhibit mild symptoms, it is essential to understand their clinical features for early diagnosis of patients as well as genetic counseling of family members. Currently, the recognition and diagnosis rates of CHM among ophthalmologists in various regions and levels of hospitals in China still need to be improved. A standardized clinical pathway is needed to meet the diagnostic and treatment needs of patients. Led by the the Chinese Hereditary Ocular Disease Diagnosis and the Treatment Group and the Chinese Hereditary Ocular Disease Alliance, based on existing evidence both domestically and internationally, the Expert consensus on diagnosis and treatment of choroideremia (2024) has been compiled, systematically and comprehensively elaborating on the standardized clinical pathways for CHM. Interpreting the key points of this consensus will help highlight its core points and ideas, enhancing the standardization and effectiveness of the diagnosis and treatment of CHM by ophthalmologists from all levels of hospitals.

  • This article has no references!
WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:yiyao@wanfangdata.com.cn
Baidu
map