Finally, we applied the described CATALYTEC protocol to 1 patient with confirmed biallelic RPE65-associated LCA (P1), 2 patients with the clinical phenotype of rod-cone dystrophy (RP, P2 and P3) but unclear molecular genetic diagnosis, and 3 patients with the clinical diagnosis of ABCA4-associated STGD (P4–P6) (Table 1 and Figure 4). The gene discussed is ABCA4; the disease is retinitis pigmentosa 1.