Клинические и молекулярные особенности <i>CNGA1</i&gt>-ассоциированного пигментного ретинита в восточноазиатской когорте: данные для клинических исследований генной терапии

Retinitis pigmentosa (RP) represents a genetically and clinically heterogeneous group of inherited retinal dystrophies (IRDs).¹ It accounts for more than 50% of IRDs and is the leading cause of visual disability in the working-age population.² To date, 143 genes associated with RP have been identified (https://retnet.org/). Retinitis pigmentosa has long been managed primarily through supportive care. With the success of Luxturna and rapid advancements in gene replacement therapy,³ precise treatments for RP have now become feasible. Accordingly, detailed characterization of gene-specific natural history has become essential for defining therapeutic windows, optimizing clinical trial design, and identifying sensitive outcome measures.