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 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.