SNP microarray did not identify any potentially pathogenic variants in LCA genes, but NGS on the LCA panel revealed two novel frameshift RPGRIP1 variants: c.1148_1151del in exon 9 p.(Glu383Alafs*19) and c.2465_2468dup in exon 16 p.(Ala824Ilefs*11). Here, RPGRIP1 is linked to Leber congenital amaurosis.