KEGG   DISEASE: 基底膜ドルーゼン
エントリ  
H02108                                                             
名称    
基底膜ドルーゼン
  上位グループ
家族性斑点網膜症 [DS:H00825]
概要    
Basal laminar drusen (BLD, also termed cuticular drusen or early adult onset grouped drusen) is an early-onset-drusen phenotype that shows a pattern of uniform small (25 to 75 micrometer), slightly raised, yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. It has been reported that a variant in CFH gene is strongly associated with this disease.
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
  眼球後極部の疾患
   網膜の疾患
    9B70  遺伝性網膜ジストロフィ
     H02108  基底膜ドルーゼン
パスウェイに基づく疾患分類 [BR:jp08402]
 免疫系
  nt06513  補体カスケード
   H02108  基底膜ドルーゼン
パスウェイ 
hsa04610  Complement and coagulation cascades
ネットワーク
nt06513 Complement cascade
病因遺伝子 
CFH [HSA:3075] [KO:K04004]
リンク   
ICD-11: 9B70
MeSH: C563034
OMIM: 126700
文献    
PMID:3985082
  著者
Gass JD, Jallow S, Davis B
  タイトル
Adult vitelliform macular detachment occurring in patients with basal laminar drusen.
  雑誌
Am J Ophthalmol 99:445-59 (1985)
DOI:10.1016/0002-9394(85)90012-1
文献    
  著者
Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI
  タイトル
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
  雑誌
Am J Hum Genet 82:516-23 (2008)
DOI:10.1016/j.ajhg.2007.11.007
文献    
  著者
Meyerle CB, Smith RT, Barbazetto IA, Yannuzzi LA
  タイトル
Autofluorescence of basal laminar drusen.
  雑誌
Retina 27:1101-6 (2007)
DOI:10.1097/IAE.0b013e3181451617
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