KEGG   DISEASE: シュナイダー角膜ジストロフィー
エントリ  
H00959                                                             
名称    
シュナイダー角膜ジストロフィー
概要    
Schnyder corneal dystrophy (SCD) is a corneal dystrophy that is characterized by deposition of cholesterol in the corneal stroma. SCD usually becomes apparent early in life with corneal clouding or with crystals within the corneal stroma. Over time, an initially unremarkable corneal stroma acquires small white opacities and a diffuse haze. In approximately 50% of cases, crystals are not evident clinically (Schnyder crystalline dystrophy sine crystals). Most cases of SCD lack an obvious systemic disorder, but hypercholesterolemia is common, and so are associated manifestations, such as arcus lipoides and xanthelasma. An opaque disc of corneal crystals or other lipids may diminish vision sufficiently in both eyes to result in the need for a corneal graft. SCD is caused by one of numerous mutations in the UBIAD1 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
     H00959  シュナイダー角膜ジストロフィー
病因遺伝子 
UBIAD1 [HSA:29914] [KO:K00810]
リンク   
ICD-11: 9A70.Y
ICD-10: H18.5
MeSH: C535475
OMIM: 121800
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

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