KEGG   DISEASE: 角膜上皮基底膜ジストロフィー
エントリ  
H01221                                                             
名称    
角膜上皮基底膜ジストロフィー
概要    
Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy. There is usually no hereditary pattern, but some cases presented with an autosomal dominant inheritance. Mutations in the TGFBI/BIGH3 genes, which are known to cause various forms of corneal dystrophies, have been identified. Sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium are the hallmarks of EBMD. Most patients are asymptomatic before the age of 30 years, but 10% of them may have recurrent idiopathic erosions and a loss of vision due to surface irregularity.
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
     H01221  角膜上皮基底膜ジストロフィー
病因遺伝子 
TGFBI [HSA:7045] [KO:K19519]
リンク   
ICD-11: 9A70.Y
MeSH: C535477
OMIM: 121820
文献    
  著者
Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF
  タイトル
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
  雑誌
Hum Mutat 27:553-7 (2006)
DOI:10.1002/humu.20331
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