TULP1 and Leber congenital amaurosis: Our NGS analyses revealed pathogenic variants in the LCA-associated genes SPATA7 and TULP1. Proband IV.5 of family F028 had a homozygous premature stop codon in SPATA7 (NM_018418.5:c.253C>T, p.Arg85Ter), previously described to cause LCA in three consanguineous families of Pakistani and Bangladeshi origins13.