Defective visual phototransduction due to OPN1SW loss of function

Stable Identifier
R-HSA-9918443
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective visual phototransduction due to OPN1SW loss of function
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Normal human colour vision is trichromatic, based on 3 types of cones that are maximally sensitive to light at approximately 420 nm (blue cones), 530 nm (green cones), and 560 nm (red cones). Neural circuits compare light absorbed by these 3 cone types to perceive those primary colours and combinations of them. Colour vision deficiencies result from genetic mutations that affect the expression of the full complement of cone photoreceptors and are classified by severity of deficiency (see reviews Deeb 2005, Simunovic 2010).

Tritan (blue-yellow, blue colourblindness, tritanopia; MIM:190900) deficiencies are rare (1 in 500) (Went & Pronk 1985) compared to those involving green- and red-cone deficiencies. The first report of tritan defects was in 1952 (Wright 1952). Tritan deficiencies are inherited as autosomal dominant traits (Kalmus 1955) and are a result of missense mutations in the blue-cone photopigment gene OPN1SW, leading to amino-acid substitutions in the protein sequence. Tritan defects are characterized by a selective deficiency of blue spectral sensitivity (Weitz et al. 1992).
Literature References
PubMed ID Title Journal Year
3872255 The genetics of tritan disturbances

Pronk, N, Went, LN

Hum. Genet. 1985
19927164 Colour vision deficiency

Simunovic, MP

Eye (Lond) 2010
15811001 The molecular basis of variation in human color vision

Deeb, SS

Clin. Genet. 2005
14946611 The characteristics of tritanopia

WRIGHT, WD

J Opt Soc Am 1952
1531728 Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin

Montag, E, Zrenner, E, Nathans, J, Went, LN, Miyake, Y, Weitz, CJ, Shinzato, K

Am J Hum Genet 1992
13249225 The familial distribution of congenital tritanopia, with some remarks on some similar conditions

KALMUS, H

Ann. Hum. Genet. 1955
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
blue color blindness DOID:11661 Tritan defect, Tritanopia, Tritanopia (disorder), Tritan defect (disorder)
Authored
Jassal, B  (2012-09-12)
Reviewed
Matthews, L  (2024-08-15)
Created
Orlic-Milacic, M  (2024-08-15)
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