KEGG   DISEASE: Bradyopsia
Entry
H00973                      Disease                                
Name
Bradyopsia
Description
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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Impairment of visual functions
   9D7Y  Other specified impairment of visual functions
    H00973  Bradyopsia
Pathway
hsa04744  Phototransduction
Gene
(PERRS1) RGS9 [HSA:8787] [KO:K13765]
(PERRS2) RGS9BP [HSA:388531] [KO:K25405]
Other DBs
ICD-11: 9D7Y
MeSH: C564243
OMIM: 608415
Reference
PMID:17826834
  Authors
Hartong DT, Pott JW, Kooijman AC
  Title
Six patients with bradyopsia (slow vision): clinical features and course of the disease.
  Journal
Ophthalmology 114:2323-31 (2007)
DOI:10.1016/j.ophtha.2007.04.057
Reference
PMID:14702087 (PERRS1 PERRS2)
  Authors
Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP
  Title
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
  Journal
Nature 427:75-8 (2004)
DOI:10.1038/nature02170
Reference
PMID:19818506 (PERRS1 PERRS2)
  Authors
Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR
  Title
Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
  Journal
Ophthalmology 117:120-127.e1 (2010)
DOI:10.1016/j.ophtha.2009.06.011
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