KEGG   DISEASE: 網膜分離症
エントリ  
H02475                                                             
名称    
網膜分離症
  下位グループ
X-連鎖性若年性網膜分離症 (XLRS)
概要    
Retinoschisis (RS) is a retinal disorder with macular degeneration. In most cases, juvenile retinoschisis is transmitted as an X-linked recessive trait. The RS1 gene responsible for X-linked juvenile retinoschisis (XLRS) was discovered by positional cloning.
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
     H02475  網膜分離症
病因遺伝子 
RS1 [HSA:6247] [KO:K25729]
リンク   
ICD-11: LA13.3
MeSH: D041441
OMIM: 312700
文献    
PMID:15531314
  著者
Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K
  タイトル
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.
  雑誌
Am J Ophthalmol 138:788-98 (2004)
DOI:10.1016/j.ajo.2004.06.031
文献    
PMID:19093009
  著者
Lesch B, Szabo V, Kanya M, Somfai GM, Vamos R, Varsanyi B, Pamer Z, Knezy K, Salacz G, Janaky M, Ferencz M, Hargitai J, Papp A, Farkas A
  タイトル
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
  雑誌
Mol Vis 14:2321-32 (2008)
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