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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

  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
  1. * Category 1: A well-defined corneal dystrophy in which the gene has been mapped and identified and specific mutations are known
  2. 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
  3. Category 3: A well-defined clinical corneal dystrophy in which the disorder has not yet been mapped to a chromosomal locus.
  4. Category 4: A suspected new, or previously documented corneal dystrophy, although the evidence for it, being a distinct entity, is not yet convincing.