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
From: Corneal dystrophies
| Â | Mode of inheritance | Gene locus | Gene | IC3D Category* |
|---|---|---|---|---|
SUPERFICIAL CORNEAL DYSTROPHIES | Â | Â | Â | Â |
Meesmann dystrophy | AD | 12q13 | KRT3 | 1 |
Meesmann dystrophy | AD | 17q12 | KRT12 | 1 |
Stocker-Holt dystrophy | AD | 17q12 | KRT12 | 1 |
Granular corneal dystrophy type III | Â | Â | Â | Â |
(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 | Â | Â | Â | Â |
Macular corneal dystrophy | AR | 16q22 | CHST6 | 1 |
Granular corneal dystrophy type I | AD | 5q31 | TGFBI | 1 |
Granular corneal dystrophy type II | Â | Â | Â | Â |
(Avellino dystrophy, | Â | Â | Â | Â |
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 | Â | Â | Â | Â |
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 | Â | Â | Â | Â |
| Â | AR | 20p13-p12 | SLC4A11 | 1 |
X-linked endothelial corneal dystrophy | XR | Unknown | Unknown | 2 |