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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 |
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| Mode of inheritance |
Gene locus |
Gene |
IC3D Category* |
|
|
|
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| SUPERFICIAL CORNEAL DYSTROPHIES |
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| Meesmann dystrophy |
AD |
12q13 |
KRT3 |
1 |
| Meesmann dystrophy |
AD |
17q12 |
KRT12 |
1 |
| Stocker-Holt dystrophy |
AD |
17q12 |
KRT12 |
1 |
| Granular corneal dystrophy type III |
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| (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 |
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| Macular corneal dystrophy |
AR |
16q22 |
CHST6 |
1 |
| Granular corneal dystrophy type I |
AD |
5q31 |
TGFBI |
1 |
| Granular corneal dystrophy type II |
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| (Avellino dystrophy, |
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| 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 |
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| 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 |
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| AR |
20p13-p12 |
SLC4A11 |
1 |
|
| X-linked endothelial corneal dystrophy |
XR |
Unknown |
Unknown |
2 |
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* 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. | ||||
Klintworth Orphanet Journal of Rare Diseases 2009 4:7 doi:10.1186/1750-1172-4-7 |
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