Corneal dystrophy (human)

Corneal dystrophy (human)
Corneal dystrophy (human)
Classification and external resources
ICD-10 H18.5
ICD-9 371.5
MeSH D003317

Human corneal dystrophy is a group of disorders, characterised by a noninflammatory, inherited, bilateral opacity of the transparent front part of the human eye called the cornea. There are a number of rare forms varying in expression and degree of vision loss.[1]

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.[2]

Contents

List

Types include:

Location OMIM Gene Name
Descemet/endothelial 609140 COL8A2 Posterior polymorphous dystrophy type 2
Stroma 607541 TGFBI Granular corneal dystrophy type II (also Avellino corneal dystrophy)
Stroma 610048 DCN Congenital stromal dystrophy (CSCD)
Stroma 121800 UBIAD1 Schnyder corneal dystrophy
Epithelial and Subepithelial 121820 TGFBI Epithelial basement membrane dystrophy, 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.[1]
Descemet/endothelial 136800 COL8A2 Fuchs' dystrophy, 1
Descemet/endothelial 613268 SLC4A11 Fuchs' dystrophy, 4
Descemet/endothelial 613270 ZEB1 Fuchs' dystrophy, 6
Epithelial and subepithelial 204870 TACSTD2 Gelatinous drop-like corneal dystrophy
Stroma 121900 TGFBI Granular corneal dystrophy type I (Groenouw)
Descemet/endothelial 122000 VSX1 Corneal dystrophy, hereditary polymorphous posterior
Stroma 122200 TGFBI Lattice corneal dystrophy type I
Stroma 608471 TGFBI Corneal dystrophy, lattice type IIIA
Descemet/endothelial 609141 ZEB1 Posterior polymorphous dystrophy type 3
Bowman layer 608470 TGFBI Reis-Bucklers corneal dystrophy (CDB1)
Bowman layer 602082 TGFBI Thiel-Behnke dystrophy (CDB2)
Descemet/endothelial 217700 SLC4A11 Congenital endothelial dystrophy type 2 (CHED2)
Descemet/endothelial 217400 SLC4A11 Corneal endothelial dystrophy and perceptive deafness
Stroma Macular corneal dystrophy
Epithelial and subepithelial 122100 Meesmann juvenile epithelial corneal dystrophy (MECD, Stocker-Holt dystrophy)
Epithelial and subepithelial Subepithelial mucinous corneal dystrophy
Epithelial and subepithelial Lisch epithelial dystrophy
Stroma Lattice corneal dystrophy type II
Stroma Fleck dystrophy
Stroma Posterior amorphous corneal dystrophy
Descemet/endothelial Posterior polymorphous dystrophy type 1
Descemet/endothelial Congenital endothelial dystrophy type 1 (CHED1)
Descemet/endothelial X-linked endothelial corneal dystrophy

Other conditions affecting cornea

References

  1. ^ a b Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis 4 (1): 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704. http://www.ojrd.com/content/4//7. 
  2. ^ Weiss JS, Møller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, Kivelä T, Busin M, Munier FL, Seitz B, Sutphin J, Bredrup C, Mannis MJ, Rapuano CJ, Van Rij G, Kim EK, Klintworth GK (December 2008). "The IC3D classification of the corneal dystrophies". Cornea. 27 Suppl 2 (Suppl 2): S1–83. doi:10.1097/ICO.0b013e31817780fb. PMC 2866169. PMID 19337156. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=0277-3740&volume=27&issue=&spage=S1. 

External links


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