KEGG   DISEASE: 硝子体血管系遺残
エントリ  
H02112                                                             
名称    
硝子体血管系遺残;
第一次硝子体過形成遺残
概要    
Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. PHPV typically presents unilaterally without association with systemic findings, but sometimes PHPV may be associated with rare systemic syndromes. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait.
カテゴリ  
神経系疾患
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
     H02112  硝子体血管系遺残
病因遺伝子 
ATOH7 [HSA:220202] [KO:K09083]
リンク   
ICD-11: LA13.0
MeSH: D054514
OMIM: 221900
文献    
  著者
Shastry BS
  タイトル
Persistent hyperplastic primary vitreous: congenital malformation of the eye.
  雑誌
Clin Exp Ophthalmol 37:884-90 (2009)
DOI:10.1111/j.1442-9071.2009.02150.x
文献    
  著者
Tartarella MB, Takahagi RU, Braga AP, Fortes Filho JB
  タイトル
Persistent fetal vasculature: ocular features, management of cataract and outcomes.
  雑誌
Arq Bras Oftalmol 76:185-8 (2013)
DOI:10.1590/S0004-27492013000300011
文献    
  著者
Khan K, Logan CV, McKibbin M, Sheridan E, Elcioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M
  タイトル
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
  雑誌
Hum Mol Genet 21:776-83 (2012)
DOI:10.1093/hmg/ddr509
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