Fig. 2

Disease types and genotypes in the patient group. (A) Distribution of primary IRD diagnoses, with retinitis pigmentosa as the most common subtype. (B) Genetic testing results were categorized as (i) the top 14 commonly reported genes in China, (ii) other genes, (iii) “gene not been tested” (patients without any genetic testing), and (iv) “genetic testing negative” (patients tested but no pathogenic variants detected).