To date, mutations in CNGA3 [MIM 600053], CNGB3 [MIM 605080], GNAT2 [MIM 139340], PDE6C [MIM 600827] and PDE6H [MIM 601190] are known to cause ACHM (Kohl et al. 1998, 2000, 2002, 2012; Chang et al. 2009). The gene discussed is CNGB3; the disease is achromatopsia.