KEGG   DISEASE: Granular corneal dystrophies
Entry
H00955                      Disease                                
Name
Granular corneal dystrophies
Description
Granular corneal dystrophy (GCD), inherited in an autosomal dominant fashion, is one of the most common corneal dystrophies characterized by the deposition of gray-white crumb like opacities in the anterior stroma that slowly increase in number and progress into deeper parts of the cornea. The disease is typically asymptomatic, but can present with pain from recurrent erosions and decreased vision. Opacities in granular dystrophy are composed of eosinophilic hyaline deposits. Differences in the clinical appearance of the discrete corneal opacities permit to divide into types of GCD; Type I classic form of GCD, type II Avellino or granular-lattice type, and type III Reis-Bucklers type. GCD has been linked to several mutations in TGFBI gene.
Category
Nervous system disease
Brite
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
     H00955  Granular corneal dystrophies
Gene
TGFBI [HSA:7045] [KO:K19519]
Comment
In regard to Granular corneal dystrophy (GCD) type III, see also [DS:H00951].
Other DBs
ICD-11: 9A70.Y
MeSH: C537304 C535474
OMIM: 121900 607541 608470
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
Reference
  Authors
Pieramici SF, Afshari NA
  Title
Genetics of corneal dystrophies: the evolving landscape.
  Journal
Curr Opin Ophthalmol 17:361-6 (2006)
DOI:10.1097/01.icu.0000233955.94347.84
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