KEGG   DISEASE: 網膜動脈蛇行
エントリ  
H02880                                                             
名称    
網膜動脈蛇行
概要    
Retinal arterial tortuosity (RATOR) is a rare autosomal dominant disorder characterized by tortuosity of the second and higher order retinal arterioles. It may be asymptomatic but may cause visual loss with recurrent retinal hemorrhages. It has been reported that RATOR is associated with mutations in the COL4A1 gene, which encodes a component of type IV collagen.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   眼, 眼瞼または涙器の構造的発達異常
    LA13  眼球後極部の構造的発達異常
     H02880  網膜動脈蛇行
病因遺伝子 
COL4A1 [HSA:1282] [KO:K06237]
リンク   
ICD-11: LA13.3
OMIM: 180000
文献    
  著者
Sutter FK, Helbig H
  タイトル
Familial retinal arteriolar tortuosity: a review.
  雑誌
Surv Ophthalmol 48:245-55 (2003)
DOI:10.1016/s0039-6257(03)00029-8
文献    
  著者
Zenteno JC, Crespi J, Buentello-Volante B, Buil JA, Bassaganyas F, Vela-Segarra JI, Diaz-Cascajosa J, Marieges MT
  タイトル
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.
  雑誌
Graefes Arch Clin Exp Ophthalmol 252:1789-94 (2014)
DOI:10.1007/s00417-014-2800-6
文献    
  著者
Saraf SS, Tyring AJ, Chen CL, Le TP, Kalina RE, Wang RK, Chao JR
  タイトル
Familial retinal arteriolar tortuosity and quantification of vascular tortuosity using swept-source optical coherence tomography angiography.
  雑誌
Am J Ophthalmol Case Rep 14:74-78 (2019)
DOI:10.1016/j.ajoc.2019.03.001
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