RPGRIP1 and Leber congenital amaurosis: This allele has no published allele frequency in white controls, but was detected in our laboratory in the homozygous state in an unaffected parent of Indian descent whose affected children have LCA caused by a homozygous mutation in the gene RPGRIP1. All our patients with this change were from the Indian subcontinent and the Middle-East, suggesting it may be a polymorphism in these populations.