View source for Congenital stromal corneal dystrophy

{{Infobox Disease
 | Name           = Congenital stromal corneal dystrophy
 | Image          = Congenital stromal corneal dystrophy.jpg
 | Caption        = The cornea is particularly opaque in the anterior stroma by slit-lamp biomicroscopy
 | DiseasesDB     =
 | ICD10          =
 | ICD9           =
 | ICDO           =
 | OMIM           = 610048
 | MedlinePlus    =
 | eMedicineSubj  =
 | eMedicineTopic =
 | MeshID         =
}}
'''Congenital stromal corneal dystrophy''' (CSCD), also called '''Witschel dystrophy''', is an extremely rare, [[autosome|autosomal]] [[dominance (genetics)|dominant]] form of [[corneal dystrophy (human)|human corneal dystrophy]].<ref name=audcscd>{{cite pmid|15671264}}</ref> It is non-progressive and is linked to mutations in DCN gene encoding [[decorin]] protein. Only 4 families have been reported to have the disease by 2009.<!--

--><ref name="pmid19236704">{{cite journal |author=Klintworth GK |title=Corneal dystrophies |journal=[[Orphanet J Rare Dis]] |volume=4 |issue= |pages=7 |year=2009 |pmid=19236704 |pmc=2695576 |doi=10.1186/1750-1172-4-7 |url=http://www.ojrd.com/content/4//7}}</ref><!--

--> The main features of the disease are numerous opaque flaky or feathery areas of clouding in the stroma that multiply with age and eventually preclude visibility of the endothelium. Strabismus or primary open angle glaucoma was noted in some of the patients. Thickness of the cornea stays the same, Descemet's membrane and endothelium are relatively unaffected, but the fibrills of collagen that constitute stromal lamellae are reduced in diameter and lamellae themselves are packed significantly more tightly.

==Genetics==
[[Image:autodominant.jpg|thumb|left|Congenital stromal corneal dystrophy has an autosomal dominant pattern of [[heredity|inheritance]].]]

CSCD is associated with a mutation in the gene that encodes the protein [[decorin]], located at [[chromosome]] [[chromosome 12|12q22]].<ref name=audcscd/> The disorder is inherited in an autosomal dominant manner,<ref name=audcscd/> which indicates that the defective gene responsible for a disorder is located on an [[autosome]] (chromosome 12 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

==References==
{{reflist|2}}

==External links==
*[http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=csc-dys  GeneReviews/NCBI/NIH/UW entry on Congenital Stromal Corneal Dystrophy]

{{Human corneal dystrophy}}

{{DEFAULTSORT:Congenital Stromal Corneal Dystrophy}}
[[Category:Ophthalmology]]
[[Category:Rare diseases]]
[[Category:Autosomal dominant disorders]]


{{genetic-disorder-stub}}

[[ru:Врождённая дистрофия стромы роговицы]]
[[Category:2Fix]]