KEGG   DISEASE: 遅視症
エントリ  
H00973                      Disease                                
名称    
遅視症
概要    
Bradyopsia is a condition in which patients show a prolonged response suppression on electroretinogram and have delayed adapting to sudden changes in luminance levels, photophobia, and difficulties seeing moving objects. Visual acuity is normal to moderately reduced in the affected individuals. Recessive mutations have been reported in the genes encoding RGS9 and R9AP that have a critical role in the recovery phase of visual transduction.
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
  視覚機能の障害
   9D7Y  その他の明示された視覚機能の障害
    H00973  遅視症
パスウェイ 
hsa04744  Phototransduction
病因遺伝子 
(PERRS1) RGS9 [HSA:8787] [KO:K13765]
(PERRS2) RGS9BP [HSA:388531] [KO:K25405]
リンク   
ICD-11: 9D7Y
MeSH: C564243
OMIM: 608415
文献    
PMID:17826834
  著者
Hartong DT, Pott JW, Kooijman AC
  タイトル
Six patients with bradyopsia (slow vision): clinical features and course of the disease.
  雑誌
Ophthalmology 114:2323-31 (2007)
DOI:10.1016/j.ophtha.2007.04.057
文献    
PMID:14702087 (PERRS1 PERRS2)
  著者
Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP
  タイトル
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
  雑誌
Nature 427:75-8 (2004)
DOI:10.1038/nature02170
文献    
PMID:19818506 (PERRS1 PERRS2)
  著者
Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR
  タイトル
Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
  雑誌
Ophthalmology 117:120-127.e1 (2010)
DOI:10.1016/j.ophtha.2009.06.011
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