Causal mutations in the maternal genes NLRP7(Nacht Domain-, Leucine-rich Repeat-, and PYD-containing protein 7)[11-13] and KHDC3L/C6orf221(KH domain containing 3 like) have been identified in women with familial, recurrent bi-parental CHM, which accounts for approximately 20% of all CHM [11]. This evidence concerns the gene NLRP7 and choroideremia.