Defective OPN1LW causes CBP

Stable Identifier
R-HSA-2471660
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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.

Anomolous trichromacy is the mildest form. Although affected individuals express all three cones, the way the cones process the primary colours is aberrant so discriminating various colours is difficult. Anomolous trichromacy is subdivided into protanomaly (affects red cones), deuteranomaly (affects green cones) and tritanomaly (affects blue cones). Dichromacy is the next severest colour vision deficiency. Dichromats have reduced colour vision based on the use of only 2 types of cone photoreceptors. Dichromacy is subdivided into protanopia (no functional red cones), deuteranopia (no functional green cones) and tritanopia (no functional blue cones). Monochromacy is the severest form of colour vision deficiency in which colour discrimination is absent due to dysfunctional or non-functional cones. All vision is therefore mediated by rods which otherwise usually function only in night conditions (see reviews Deeb 2005, Simunovic 2010).

Defects in OPN1LW cause partial colorblindness, protan series (CBP, protanopia; MIM:303900) due to non-functional red cones. The mutation G338E causes CBP (Ueyama et al. 2002).

Literature References
PubMed ID Title Journal Year
12051694 Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies

Ueyama, H, Kuwayama, S, Imai, H, Tanabe, S, Oda, S, Nishida, Y, Wada, A, Shichida, Y, Yamade, S

Biochem. Biophys. Res. Commun. 2002
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
red color blindness 13910 Protanopia, Protan defect (disorder), Protan defect
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Reviewed
Created