Another study involving 14 families of Northern Pakistan described the genotype-phenotype correlations of LCA revealing six novel, homozygous mutations in genes AIPL1, LCA5 (3 families each), RPGRIP1 (four families), RPE65, CRB1, TULP1 (one family each) and linkage to the LCA9 locus. The gene discussed is RPE65; the disease is Leber congenital amaurosis.