is a group of disorders, characterised by a noninflammatory, inherited, bilateral opacity of the transparent front part of the
. There are a number of rare forms varying in expression and degree of vision loss.
The International Committee for Classification of Corneal Dystrophies (IC3D) was established in 2005 and created a new classification system employing the latest data of molecular biology and genetics.
| Location |
OMIM |
Gene |
Name |
|
| Descemet/endothelial
|
| COL8A2Collagen alpha-2 chain is a protein that in humans is encoded by the COL8A2 gene. Mutations of the gene are linked to posterior polymorphous dystrophy type 2.-Further reading:...
| Posterior polymorphous dystrophy type 2>
|
| Stroma
|
| TGFBITransforming growth factor, beta-induced, 68kDa, also known as TGFBI , is a protein which in humans is encoded by the TGFBI gene.- Function :...
| Granular corneal dystrophy type IIGranular corneal dystrophy type II , also called Avellino corneal dystrophy or combined granular-lattice corneal dystrophy, is a rare form of human corneal dystrophy. It is caused by mutations in the TGFBI gene encoding the protein keratoepithelin, and is inherited in an autosomal dominant...
(also Avellino corneal dystrophy)>
|
| Stroma
|
| DCNDCNS is a naval defence company based in France and is one of Europe's leading shipbuilders....
| Congenital stromal dystrophy (CSCD)>
|
| Stroma
|
| UBIAD1UbiA prenyltransferase domain-containing protein 1 also known as transitional epithelial response protein 1 is a protein that in humans is encoded by the UBIAD1 gene....
| Schnyder corneal dystrophy>
|
| Epithelial and Subepithelial
|
| TGFBITransforming growth factor, beta-induced, 68kDa, also known as TGFBI , is a protein which in humans is encoded by the TGFBI gene.- Function :...
| Epithelial basement membrane dystrophyEpithelial basement membrane dystrophy is a disorder of the eye, sometimes included in the group of corneal dystrophies. It diverges from the formal definition of corneal dystrophy in being in most cases non-familial...
, called a corneal dystrophy but in reality this condition is not inherited in the majority of cases, representing a non-specific reaction to a variety of corneal insults.>
|
| Descemet/endothelial
|
| COL8A2Collagen alpha-2 chain is a protein that in humans is encoded by the COL8A2 gene. Mutations of the gene are linked to posterior polymorphous dystrophy type 2.-Further reading:...
| Fuchs' dystrophyFuchs' dystrophy, also known as Fuchs' endothelial dystrophy, is a slowly progressing corneal disease that usually affects both eyes and is slightly more common in women than in men...
, 1>
|
| Descemet/endothelial
|
| SLC4A11Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.-Further reading:...
| Fuchs' dystrophyFuchs' dystrophy, also known as Fuchs' endothelial dystrophy, is a slowly progressing corneal disease that usually affects both eyes and is slightly more common in women than in men...
, 4>
|
| Descemet/endothelial
|
| ZEB1Zinc finger E-box-binding homeobox 1 is a protein that in humans is encoded by the ZEB1 gene.TCF8 encodes a human zinc finger transcription factor that represses T-lymphocyte-specific IL2 gene expression by binding to a negative regulatory domain 100 nucleotides 5-prime of the IL2 transcription...
| Fuchs' dystrophyFuchs' dystrophy, also known as Fuchs' endothelial dystrophy, is a slowly progressing corneal disease that usually affects both eyes and is slightly more common in women than in men...
, 6>
|
| Epithelial and subepithelial
|
| TACSTD2Tumor-associated calcium signal transducer 2 is a protein that in humans is encoded by the TACSTD2 gene.This intronless gene encodes a carcinoma-associated antigen defined by the monoclonal antibody GA733. This antigen is a member of a family including at least two type I membrane proteins. It...
| Gelatinous drop-like corneal dystrophyGelatinous drop-like corneal dystrophy is a rare form of human corneal dystrophy...
>
|
| Stroma
|
| TGFBITransforming growth factor, beta-induced, 68kDa, also known as TGFBI , is a protein which in humans is encoded by the TGFBI gene.- Function :...
| Granular corneal dystrophy type IGranular corneal dystrophy type I is a rare form of human corneal dystrophy. It is caused by mutations in TGFBI gene encoding keratoepithelin....
(Groenouw)>
|
| Descemet/endothelial
|
| VSX1Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the...
| Corneal dystrophy, hereditary polymorphous posterior>
|
| Stroma
|
| TGFBITransforming growth factor, beta-induced, 68kDa, also known as TGFBI , is a protein which in humans is encoded by the TGFBI gene.- Function :...
| Lattice corneal dystrophy type ILattice corneal dystrophy type I is a rare form of human corneal dystrophy. It is caused by mutations in TGFBI gene encoding keratoepithelin. It has no systemic manifestations, unlike the other type of the dystrophy, LCDII. Filamentous opacities appear in the cornea with intertwining delicate...
>
|
| Stroma
|
| TGFBITransforming growth factor, beta-induced, 68kDa, also known as TGFBI , is a protein which in humans is encoded by the TGFBI gene.- Function :...
| Corneal dystrophy, lattice type IIIA>
|
| Descemet/endothelial
|
| ZEB1Zinc finger E-box-binding homeobox 1 is a protein that in humans is encoded by the ZEB1 gene.TCF8 encodes a human zinc finger transcription factor that represses T-lymphocyte-specific IL2 gene expression by binding to a negative regulatory domain 100 nucleotides 5-prime of the IL2 transcription...
| Posterior polymorphous dystrophy type 3>
|
| Bowman layer
|
| TGFBITransforming growth factor, beta-induced, 68kDa, also known as TGFBI , is a protein which in humans is encoded by the TGFBI gene.- Function :...
| Reis-Bucklers corneal dystrophy (CDB1)>
|
| Bowman layer
|
| TGFBITransforming growth factor, beta-induced, 68kDa, also known as TGFBI , is a protein which in humans is encoded by the TGFBI gene.- Function :...
| Thiel-Behnke dystrophy (CDB2)>
|
| Descemet/endothelial
|
| SLC4A11Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.-Further reading:...
| Congenital endothelial dystrophy type 2Congenital endothelial dystrophy type 2 is a rare form of human corneal dystrophy. It is associated with mutations in SLC4A11 gene.-See also:*Congenital endothelial dystrophy type 1...
(CHED2)>
|
| Descemet/endothelial
|
| SLC4A11Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.-Further reading:...
| Corneal endothelial dystrophy and perceptive deafness>
|
| Stroma
|
|
| Macular corneal dystrophyMacular corneal dystrophy is a rare pathological condition affecting the stroma of cornea. The first signs are usually noticed in the first decade of life, and progress afterwards, with opacities developing in the cornea and attacks of pain...
>
|
| Epithelial and subepithelial
|
|
| Meesmann juvenile epithelial corneal dystrophyMeesmann juvenile epithelial corneal dystrophy is a keratin disease.It is named for Alois Meesmann.It is sometimes called "Meesmann-Wilke syndrome", after the joint contribution of Meesmann and Wilke....
(MECD, Stocker-Holt dystrophy)>
|
| Epithelial and subepithelial
|
|
| Subepithelial mucinous corneal dystrophySubepithelial mucinous corneal dystrophy is a rare form of human corneal dystrophy. It was first described in 1993 by Feder et al. Anterior to Bowman layer, deposits of glycosaminoglycan were detected and identified as chondroitin-4-sulfate and dermatan sulfate....
>
|
| Epithelial and subepithelial
|
|
| Lisch epithelial dystrophy>
|
| Stroma
|
|
| Lattice corneal dystrophy type II>
|
| Stroma
|
|
| Fleck dystrophy>
|
| Stroma
|
|
| Posterior amorphous corneal dystrophyPosterior amorphous corneal dystrophy is a rare form of human corneal dystophy. It is not yet linked to any chromosomal locus. The first case report describing this dystrophy dates back to 1977....
>
|
| Descemet/endothelial
|
|
| Posterior polymorphous dystrophy type 1>
|
| Descemet/endothelial
|
|
| Congenital endothelial dystrophy type 1Congenital endothelial dystrophy type 1 is a rare form of human corneal dystrophy....
(CHED1)>
|
| Descemet/endothelial
|
|
| X-linked endothelial corneal dystrophyX-linked endothelial corneal dystrophy is a rare form of human corneal dystrophy described first in 2006. It is manifested as corneal clouding in the form of a ground glass, milky corneal tissue, and moon crater-like changes of corneal endothelium....
>
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