KEGG   DISEASE: Colorblindness
Entry
H00976                      Disease                                
Name
Colorblindness
  Subgroup
Protanomaly
Dichromacy
Anomalous trichromacy
Description
Colorblindness is the inability or decreased ability to perceive color differences. Dichromacy is a condition characterized by reduced dimension of color vision in which one of the three basic color mechanisms is absent or not functioning. Anomalous trichromacy is the milder form of color vision deficiency, with ability to discriminate between different colors in varying degrees but not normal. Dichromacy and anomalous trichromacy are subdivided into three types: protan, deutan, and tritan depending on the affected cone type. Protan and deutan types consist red-green defects. Inherited red-green color vision defects affect 8% of males. Tritan type defect leads to inherited blue-yellow defect that is fairly rare.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Impairment of visual functions
   9D44  Impairment of colour vision
    H00976  Colorblindness
Gene
(CBP) OPN1LW [HSA:5956] [KO:K04251]
(CBD) OPN1MW [HSA:2652] [KO:K04251]
(CBT) OPN1SW [HSA:611] [KO:K04252]
Other DBs
ICD-11: 9D44
ICD-10: H53.5
MeSH: D003117
OMIM: 303700 303800 303900 190900
Reference
  Authors
Simunovic MP
  Title
Colour vision deficiency.
  Journal
Eye (Lond) 24:747-55 (2010)
DOI:10.1038/eye.2009.251
Reference
PMID:7511848
  Authors
Tovee MJ
  Title
The molecular genetics and evolution of primate colour vision.
  Journal
Trends Neurosci 17:30-7 (1994)
DOI:10.1016/0166-2236(94)90032-9
Reference
  Authors
Bouman MA
  Title
The simple perfection of quantum correlation in human vision.
  Journal
Prog Neurobiol 78:38-60 (2006)
DOI:10.1016/j.pneurobio.2005.11.006
Reference
PMID:12051694 (OPN1LW OPN1MW)
  Authors
Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S
  Title
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
  Journal
Biochem Biophys Res Commun 294:205-9 (2002)
DOI:10.1016/S0006-291X(02)00458-8
Reference
PMID:1531728 (OPN1SW)
  Authors
Weitz CJ, Miyake Y, Shinzato K, Montag E, Zrenner E, Went LN, Nathans J
  Title
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
  Journal
Am J Hum Genet 50:498-507 (1992)
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