Similarly, IL1RN and SLC4A11 were implicated by an intronic SNV and a 54 bp intronic deletion (respectively) which almost completely co-segregated with keratoconus in an Ecuadorian family.[18] Although these specific variants could not be assessed in our study, the overarching design and aim was to examine the coding regions of the 21 selected genes for enrichment of potentially pathogenic variants in keratoconus. The gene discussed is IL1RN; the disease is keratoconus.