Corneal dystrophy
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs118020901 | 4 |
| rs181958589 | 0 |
| rs185919705 | 4 |
| rs267607064 | 4 |
| rs267607065 | 4 |
| rs267607066 | 4 |
| rs727504229 | 0 |
| rs80194531 | 4 |
| rs80358191 | 4 |
| rs80358192 | 4 |
Corneal dystrophy refers to a group of relatively rare hereditary disorders characterised by abnormal deposits on the cornea. There are over 20 types of corneal dystrophies, usually manifesting themselves during the first or second decade but sometimes later. Individuals with corneal dystrophies are among the types of patients not recommended for [Lasik]] surgeries.[1]
Most corneal dystrophies are inherited as autosomal dominant conditions, including the most common form, keratoconus. Another type of corneal dystrophy, the Avellino type, is associated with mutations in the keratoepithelin TGFBI gene.
The following table shows SNPs along with their associated genes and clinical conditions:
| In gene | On microarray | ClinVar CLNSIG | ClinVar CLNDBN | |
|---|---|---|---|---|
| rs181958589 | AGBL1 | Ancestry v2 23andMe v5 Ancestry v2c Ancestry v2d | 5 | Corneal dystrophy, Fuchs endothelial, 8 |
| rs185919705 | AGBL1 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal dystrophy, Fuchs endothelial, 8 |
| rs80358191 | COL8A2 | 5 | Corneal dystrophy, Fuchs endothelial 1 Corneal dystrophy, posterior polymorphous, 2 | |
| rs80358192 | COL8A2 | 5 | Corneal dystrophy, Fuchs endothelial 1 Corneal dystrophy, posterior polymorphous, 2 | |
| rs727504229 | COL8A2 | 5 | Corneal dystrophy, Fuchs endothelial 1 | |
| rs267607065 | SLC4A11 | Ancestry v2 Ancestry v2d | 5 | Corneal dystrophy, Fuchs endothelial, 4 |
| rs121909390 | SLC4A11 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal endothelial dystrophy |
| rs869320720 | SLC4A11 | 5 | Corneal endothelial dystrophy | |
| rs121909395 | SLC4A11 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal dystrophy and perceptive deafness |
| rs797045107 | SLC4A11 | 5 | Corneal endothelial dystrophy type 2 | |
| rs121909391 | SLC4A11 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal endothelial dystrophy |
| rs121909396 | SLC4A11 | Ancestry v2c Ancestry v2d | 5 | Corneal dystrophy and perceptive deafness |
| rs121909387 | SLC4A11 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal endothelial dystrophy |
| rs869320617 | SLC4A11 | 5 | Corneal endothelial dystrophy | |
| rs121909392 | SLC4A11 | Ancestry v2 Ancestry v2d | 5 | Corneal endothelial dystrophy |
| rs267607066 | SLC4A11 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal dystrophy, Fuchs endothelial, 4 |
| rs121909388 | SLC4A11 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal endothelial dystrophy |
| rs869320722 | SLC4A11 | 5 | Corneal dystrophy and perceptive deafness | |
| rs121909393 | SLC4A11 | Ancestry v2 Ancestry v2d | 5 | Corneal dystrophy and perceptive deafness |
| rs267607064 | SLC4A11 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal dystrophy, Fuchs endothelial, 4 |
| rs121909389 | SLC4A11 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal endothelial dystrophy |
| rs869320721 | SLC4A11 | 5 | Corneal dystrophy and perceptive deafness | |
| rs121909394 | SLC4A11 | Ancestry v2 Ancestry v2d | 5 | Corneal dystrophy and perceptive deafness |
| rs121909211 | TGFBI | 5 | Avellino corneal dystrophy Reis-Bucklers' corneal dystrophy | |
| rs121909216 | TGFBI | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal epithelial dystrophy |
| rs121909212 | TGFBI | Ancestry v2d | 5 | Lattice corneal dystrophy type 3A |
| rs121909217 | TGFBI | Ancestry v2c Ancestry v2d | 5 | Corneal epithelial dystrophy |
| rs121909208 | TGFBI | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Groenouw corneal dystrophy type I |
| rs121909213 | TGFBI | 5 | Reis-Bucklers' corneal dystrophy | |
| rs267607109 | TGFBI | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Lattice corneal dystrophy Type I |
| rs121909209 | TGFBI | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Thiel-Behnke corneal dystrophy |
| rs121909214 | TGFBI | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Lattice corneal dystrophy type 3A |
| rs267607110 | TGFBI | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Lattice corneal dystrophy Type I |
| rs121909210 | TGFBI | Ancestry v2c Ancestry v2d | 5 | Groenouw corneal dystrophy type I Lattice corneal dystrophy Type I |
| rs121909215 | TGFBI | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Reis-Bucklers' corneal dystrophy |
| rs74315432 | VSX1 | Ancestry v2 23andMe v5 Ancestry v2c Ancestry v2d | 5 | Keratoconus 1 |
| rs74315435 | VSX1 | Ancestry v2d | 5 | Craniofacial anomalies and anterior segment dysgenesis syndrome |
| rs74315436 | VSX1 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Keratoconus 1 Posterior Polymorphous Corneal Dystrophy |
| rs74315433 | VSX1 | Ancestry v2d | 3 | Posterior Polymorphous Corneal Dystrophy Posterior polymorphous corneal dystrophy 1 not specified |
| rs6050307 | VSX1 | 2 | Posterior Polymorphous Corneal Dystrophy | |
| rs12480307 | VSX1 | Ancestry v2 Ancestry v2c Affy GenomeWide 6 HumanOmni1Quad Ancestry v2d | 2 | not specified Posterior Polymorphous Corneal Dystrophy |
| rs80194531 | ZEB1 | Ancestry v2 Ancestry v2c Ancestry v2d | 5 | Corneal dystrophy, Fuchs endothelial, 6 |
| rs118020901 | ZEB1 | Ancestry v2 Ancestry v2d | 5 | Corneal dystrophy, Fuchs endothelial, 6 |
| rs1057518956 | ZEB1 | 5 | Glaucoma Polymorphous posterior corneal dystrophy Visual loss |
