Table 1.
Summary of the corneal dystrophies: modes of inheritance, gene loci, genes and the categories of the International Committee for the Classification of Corneal Dystrophies (IC3D) categories
| Mode of inheritance | Gene locus | Gene | IC3D Category* | |
| SUPERFICIAL CORNEAL DYSTROPHIES | ||||
| Meesmann dystrophy | AD | 12q13 | KRT3 | 1 |
| Meesmann dystrophy | AD | 17q12 | KRT12 | 1 |
| Stocker-Holt dystrophy | AD | 17q12 | KRT12 | 1 |
| Granular corneal dystrophy type III | ||||
| (Reis-Bücklers dystrophy) | AD | 5q31 | TGFBI | 1 |
| Thiel-Behnke dystrophy | AD | 5q31 | TGFBI | 1 |
| Thiel-Behnke dystrophy | AD | 10q23–q24 | Unknown | 2 |
| Gelatinous droplike corneal dystrophy (familial subepithelial corneal amyloidosis) | AR | 1p32 | TACSTD2 (M1S1) | 1 |
| Subepithelial mucinous corneal dystrophy | AD | Unknown | Unknown | 4 |
| Lisch epithelial dystrophy | XR | Xp22.3 | Unknown | 2 |
| Epithelial recurrent erosion dystrophy | AD | Unknown | Unknown | 3 |
| CORNEAL STROMAL DYSTROPHIES | ||||
| Macular corneal dystrophy | AR | 16q22 | CHST6 | 1 |
| Granular corneal dystrophy type I | AD | 5q31 | TGFBI | 1 |
| Granular corneal dystrophy type II | ||||
| (Avellino dystrophy, | ||||
| combined lattice-granular dystrophy) | AD | 5q31 | TGFBI | 1 |
| Lattice corneal dystrophy type I and variants | AD | 5q31 | TGFBI | 1 |
| Lattice corneal dystrophy type II | AD | 9q34 | GSN | 1 |
| Fleck dystrophy | AD | 2q35 | PIP5K3 | 1 |
| Schnyder corneal dystrophy | AD | 1p34.1–p36 | UBIAD1 | 1 |
| Posterior amorphous corneal dystrophy | AD | Unknown | Unknown | 3 |
| Congenital stromal dystrophy | AD | 12q13.2 | DCN | 1 |
| POSTERIOR DYSTROPHIES | ||||
| Fuchs dystrophy (early onset) | AD | 1p34.3 | COL8A | 1 |
| Fuchs dystrophy (late onset) | AD | 13pTel-13q12.13 | Unknown | 2 |
| Fuchs dystrophy (late onset) | AD | 18q21.2–q21.32 | Unknown | 2 |
| Fuchs dystrophy (late onset) | ? | 20p13-p12 | SLC4A11 | 1 |
| Fuchs dystrophy (late onset) | ? | 10p11.2 | TCF8 | 1 |
| Posterior polymorphous dystrophy type 1 | AD | 20p11.2 | Unknown | 2 |
| Posterior polymorphous dystrophy type 2 | AD | 1p34.3-p32.3 | COL8A2# | 1 |
| Posterior polymorphous dystrophy type 3 | AD | 10p11.2 | TCF8 | 1 |
| Congenital endothelial dystrophy type 1 | AD | 20p11.2-q11.2 | Unknown | 2 |
| Congenital endothelial dystrophy type 2 | ||||
| AR | 20p13-p12 | SLC4A11 | 1 | |
| X-linked endothelial corneal dystrophy | XR | Unknown | Unknown | 2 |
* Category 1: A well-defined corneal dystrophy in which the gene has been mapped and identified and specific mutations are known
Category 2: A well-defined corneal dystrophy that has been mapped to 1 or more specific chromosomal loci, but the gene(s) remains to be identified
Category 3: A well-defined clinical corneal dystrophy in which the disorder has not yet been mapped to a chromosomal locus.
Category 4: A suspected new, or previously documented corneal dystrophy, although the evidence for it, being a distinct entity, is not yet convincing.