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.
