Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence from a Chinese Cohort and Global Literature

Our study represents the largest study integrating ethnic, genotypic, and clinical data in RHO-associated retinopathy. The findings highlight substantial inter-ethnic differences in common variants and underscore the clinical relevance of biological classification in predicting disease course. In particular, R135W and P347L warrants closer clinical attention due to their aggressive trajectory, which may inform prioritization in gene therapy trials and individualized patient management.