CERS3 and rhegmatogenous retinal detachment: For instance, a missense coding single-nucleotide polymorphism in CerS2 has been associated with rhegmatogenous retinal detachment (Kirin et al., 2013), while mutations in CerS3 leading to impaired activity and expression of CerS3 have been linked to skin ichthyosis (Eckl et al., 2013).