Chinese Hereditary Ocular Disease Diagnosis and Treatment Group, Email: hrfsui@163.com
Export PDF Favorites Scan Get Citation

Choroideremia (CHM) is a rare X-linked recessive genetic inherited degeneration. 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. The pathogenesis of CHM remains incompletely understood, and currently there is no approved effective treatment. To enhance clinicians’ comprehension of CHM and establish standardized clinical approaches to its diagnosis and management, the Chinese Hereditary Ocular Disease Diagnosis and Treatment Group and the Chinese Hereditary Ocular Disease Alliance assembled authoritative experts, through in-depth discussions, formed China's standardized recommedations for the on clinical diagnosis and treatment of CHM. The purpose of this advice is to provide a standardized diagnostic framework, monitoring indicators, and an integrated management strategy for clinicians to use in practice, thereby optimizing the care and genetic guidance for patients with CHM.

Citation: Chinese Hereditary Ocular Disease Diagnosis and Treatment Group, Chinese Hereditary Ocular Disease Alliance. Expert consensus on diagnosis and treatment of choroideremia (2024). Chinese Journal of Ocular Fundus Diseases, 2024, 40(5): 335-341. doi: 10.3760/cma.j.cn511434-20240229-00086 Copy

  • Previous Article

    视盘逆位伴视网膜劈裂
  • Next Article

    视盘逆位伴视网膜劈裂