KEGG   DISEASE: 顆粒状角膜ジストロフィー
エントリ  
H00955                                                             
名称    
顆粒状角膜ジストロフィー
概要    
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.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  前眼部の疾患
   角膜の疾患
    9A70  遺伝性角膜ジストロフィ
     H00955  顆粒状角膜ジストロフィー
病因遺伝子 
TGFBI [HSA:7045] [KO:K19519]
コメント  
In regard to Granular corneal dystrophy (GCD) type III, see also [DS:H00951].
リンク   
ICD-11: 9A70.Y
MeSH: C537304 C535474
OMIM: 121900 607541 608470
文献    
  著者
Klintworth GK
  タイトル
Corneal dystrophies.
  雑誌
Orphanet J Rare Dis 4:7 (2009)
DOI:10.1186/1750-1172-4-7
文献    
  著者
Poulaki V, Colby K
  タイトル
Genetics of anterior and stromal corneal dystrophies.
  雑誌
Semin Ophthalmol 23:9-17 (2008)
DOI:10.1080/08820530701745173
文献    
  著者
Pieramici SF, Afshari NA
  タイトル
Genetics of corneal dystrophies: the evolving landscape.
  雑誌
Curr Opin Ophthalmol 17:361-6 (2006)
DOI:10.1097/01.icu.0000233955.94347.84
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