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.
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.