KEGG   DISEASE: 家族性斑点網膜症
エントリ  
H00825                                                             
名称    
家族性斑点網膜症
  下位グループ
Doyne honeycomb 網膜ジストロフィ (DHRD) [DS:H02110]
Basal laminar drusen (BLD) [DS:H02108]
白点眼底 (FA)
白点網膜炎 (RPA)
クリスタリン網膜症 (BCD) [DS:H02107]
概要    
The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group consisted of four diseases: fundus albipunctatus, fundus flavimaculatus, familial drusen and fleck retina of Kandori. Doyne honeycomb degeneration of retina (DHRD) and Basal laminar drusen (BLD) are included in familial drusen. However, there are far more diseases with fleck-like deposits in the retina, including primary hereditary ocular diseases such as retinitis punctata albescens (RPA) or Bietti's crystalline dystrophy (BCD), neuro-ophthalmologic syndromes such as Kjellin's syndrome, and secondary retinal flecks due to metabolic disorders.
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
     H00825  家族性斑点網膜症
パスウェイ 
hsa00830  Retinol metabolism
hsa04744  Phototransduction
病因遺伝子 
(DHRD) EFEMP1 [HSA:2202] [KO:K18262]
(BLD) CFH [HSA:3075] [KO:K04004]
(FA) RDH5 [HSA:5959] [KO:K00061]
(FA/RPA) RLBP1 [HSA:6017] [KO:K19625]
(RPA) PRPH2 [HSA:5961] [KO:K17343]
(RPA) RHO [HSA:6010] [KO:K04250]
(BCD) CYP4V2 [HSA:285440] [KO:K07427]
リンク   
ICD-11: 9B70
MeSH: C562733
OMIM: 136880
文献    
  著者
Walia S, Fishman GA, Kapur R
  タイトル
Flecked-retina syndromes.
  雑誌
Ophthalmic Genet 30:69-75 (2009)
DOI:10.1080/13816810802654516
文献    
  著者
Haimovici R, Wroblewski J, Piguet B, Fitzke FW, Holder GE, Arden GB, Bird AC
  タイトル
Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy).
  雑誌
Eye (Lond) 16:7-15 (2002)
DOI:10.1038/sj.eye.6700018
文献    
PMID:14767656 (RDH5)
  著者
Tsuchiya T, Kato M, Tomita N, Koide K, Hata N, Sato M, Hotta Y, Ueno M, Nakamura M, Miyake Y
  タイトル
A case of sectorial benign flecked retina.
  雑誌
Jpn J Ophthalmol 48:72-4 (2004)
DOI:10.1007/s10384-003-0002-6
文献    
PMID:8485575 (PRPH2)
  著者
Kajiwara K, Sandberg MA, Berson EL, Dryja TP
  タイトル
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
  雑誌
Nat Genet 3:208-12 (1993)
DOI:10.1038/ng0393-208
文献    
PMID:10102299 (RLBP1)
  著者
Morimura H, Berson EL, Dryja TP
  タイトル
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
  雑誌
Invest Ophthalmol Vis Sci 40:1000-4 (1999)
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