It has been associated with genes KRT3 and KRT12 located on chromosome 12 and 17 respectively found through the use of Polymerase chain reaction or PCR. These two genes function for keratin production and code for the production of keratin K3 (type II) and K12 (type I). There are several methods to find errors or mutations in the KRT3 and KRT12 genes including deletion/duplication analysis, sequence analysis of the entire coding region, and targeted variant analysis. These methods includes molecular genetic tests which include Next-Generation (NGS)/Massively parallel sequencing (MPS) and bi-directional sanger sequence analysis. A heterozygous missense mutation of Leu132Pro in the KRT12 gene exhibits a more severe phenotype while a mutation of Arg135Thr, which is most commonly found, exhibits milder symptoms. The Leu132Pro mutation and the animo acid change of N133K occurs in the helix-initiation motif of the keratin and was found to cause significant structural changes to the KRT12 gene. This mutation also leads to the aggregation of keratine and alters the keratin configuration of the corneal epithelium. The mechanism by which this mutation in K12 causes the formation of microcysts remains poorly understood.
Meesmann corneal dystrophy
Lisch epithelial corneal dystrophy
Schnyder crystalline corneal dystrophy
Lattice corneal dystrophy
Reis–Bucklers corneal dystrophy
Subepithelial mucinous corneal dystrophy
Granular corneal dystrophy
Fleck corneal dystrophy