Pathogenic or likely pathogenic variants were subsequently identified by targeted single-gene sequencing, gene panels, whole genome sequencing (WGS), or array CGH analysis, which provided genetic diagnoses of retinitis pigmentosa (X-linked RP) (MIM 300455), (RP62) (MIM 614181), (RP25) (MIM 602772), (RP11) (MIM 600138), Stargardt disease 1 (STGD1) (MIM 248200), and Leber congenital amaurosis 1 (LCA1) (MIM 204000). This evidence concerns the gene ABCA4 and Leber congenital amaurosis.