In addition, we would like to remind you that RPSKA is clinically similar to Bardet-Biedl syndrome, both with retinopathy and developmental delay as the main manifestations, sometimes misdiagnosed RPSKA as Bardet-Biedl syndrome; we also initially considered Bardet-Biedl syndrome, but the difference is that Bardet-Biedl syndrome is an autosomal recessive cilia caused by IFT74 gene mutations, with retinitis pigmentosa. The gene discussed is CWC27; the disease is retinitis pigmentosa.