KEGG   DISEASE: Congenital stromal corneal dystrophy
Entry
H00958                      Disease                                

Name
Congenital stromal corneal dystrophy;
Congenital hereditary stromal dystrophy;
Witschel dystrophy
Description
Congenital stromal corneal dystrophy (CSCD) is a rare condition characterized by numerous opaque flaky or feathery clouding of the corneal stroma. The flakes and spots become more numerous with age and are slowly progressive to decrease the visual acuity. In CSCD, the morphologic abnormalities include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter. Refractive error, photophobia, strabismus and resulting amblyopia with searching nystagmus are common in affected individuals. CSCD is linked with mutations in the decorin gene, which encodes for a dermatan sulfate proteoglycan.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00958  Congenital stromal corneal dystrophy
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of the cornea
    9A70  Hereditary corneal dystrophies
     H00958  Congenital stromal corneal dystrophy
Related
pathway
hsa04350  TGF-beta signaling pathway
Gene
DCN [HSA:1634] [KO:K04660]
Other DBs
ICD-11: 9A70.Y
ICD-10: H18.5
MeSH: C566452
OMIM: 610048
Reference
  Authors
Klintworth GK
  Title
Corneal dystrophies.
  Journal
Orphanet J Rare Dis 4:7 (2009)
DOI:10.1186/1750-1172-4-7
Reference
  Authors
Poulaki V, Colby K
  Title
Genetics of anterior and stromal corneal dystrophies.
  Journal
Semin Ophthalmol 23:9-17 (2008)
DOI:10.1080/08820530701745173

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