KEGG   DISEASE: Punctiform and polychromatic pre-Descemet corneal dystrophy
エントリ  
H02977                                                             
名称    
Punctiform and polychromatic pre-Descemet corneal dystrophy
概要    
Punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) is a rare autosomal dominant corneal dystrophy characterized by the presence of punctiform, multicolored opacities in the posterior stroma, immediately anterior to the Descemet membrane. PPPCD is currently considered a subtype of pre-Descemet corneal dystrophy (PDCD). It has been reported that mutations in PRDX3 cause PPPCD. PRDX3 encodes a mitochondrial protein with antioxidant function.
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
     H02977  Punctiform and polychromatic pre-Descemet corneal dystrophy
病因遺伝子 
PRDX3 [HSA:10935] [KO:K20011]
リンク   
ICD-11: 9A70.Y
OMIM: 619871
文献    
PMID:31782998
  著者
Alio Del Barrio JL, Chung DD, Al-Shymali O, Barrington A, Jatavallabhula K, Swamy VS, Yebana P, Angelica Henriquez-Recine M, Boto-de-Los-Bueis A, Alio JL, Aldave AJ
  タイトル
Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis.
  雑誌
Am J Ophthalmol 212:88-97 (2020)
DOI:10.1016/j.ajo.2019.11.024
文献    
PMID:34369396
  著者
Choo CH, Boto de Los Bueis A, Chung DD, Aldave AJ
  タイトル
Confirmation of PRDX3 c.568G>C as the Genetic Basis of Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy.
  雑誌
Cornea 41:779-781 (2022)
DOI:10.1097/ICO.0000000000002828
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