- Corneal dystrophy (human)
-
Main article: corneal dystrophy
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
- ^ 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.
- ^ 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
- The IC3D Classification of the Corneal Dystrophies (PDF) - The Cornea Society website.
Types of human corneal dystrophy (H18.5, 371.5) Epithelial and Subepithelial Epithelial basement membrane dystrophy (OMIM 121820), 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. · Subepithelial mucinous corneal dystrophy · Meesmann juvenile epithelial corneal dystrophy (MECD, Stocker-Holt dystrophy, OMIM 122100) · Lisch epithelial dystrophy · Gelatinous drop-like corneal dystrophyBowman layer Reis-Bucklers corneal dystrophy (CDB1) aka. Granular corneal dystrophy type III · Thiel-Behnke dystrophy (CDB2)Stroma Lattice corneal dystrophy type I · Lattice corneal dystrophy type II · Granular corneal dystrophy type I · Granular corneal dystrophy type II · Also Granular corneal dystrophy type III see Reis-Bucklers corneal dystrophy above · Macular corneal dystrophy · Schnyder corneal dystrophy · Congenital stromal dystrophy (CSCD) · Fleck dystrophy · Posterior amorphous corneal dystrophyDescemet membrane and Endothelial Fuchs' dystrophy · Posterior polymorphous dystrophy type 1 · Posterior polymorphous dystrophy type 2 · Posterior polymorphous dystrophy type 3 · Congenital endothelial dystrophy type 1 (CHED1) · Congenital endothelial dystrophy type 2 (CHED2) · X-linked endothelial corneal dystrophyM: EYE
anat(g/a/p)/phys/devp/prot
noco/cong/tumr, epon
proc, drug(S1A/1E/1F/1L)
Congenital malformations and deformations of eyes (Q10–Q15, 743) Adnexa Globe Entire eyeAnterior segmentOtherM: EYE
anat(g/a/p)/phys/devp/prot
noco/cong/tumr, epon
proc, drug(S1A/1E/1F/1L)
Categories:- Disorders of sclera and cornea
Wikimedia Foundation. 2010.
