Defective OPN1MW causes DCB and BCM

Stable Identifier
R-HSA-2466706
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol, photoreceptor outer segment membrane
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective OPN1MW causes DCB and BCM
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

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).

Deutan colourblindness (DCB, deuteranopia, partial colorblindness, green colourblindness; MIM:303800) is caused by mutations in the OPN1MW gene which encodes green cones. In European populations, red-green colourblindness is prevelant in 8% of males and 0.5% of females. This frequency is lower in non-European populations (Deeb 2005). The mutations C203R (Winderickx et al. 1992, Jagla et al. 2002), N94K and R330Q (Ueyama et al. 2002) can lead to DCB.

Blue cone monochromatism (BCM) is a rare X-linked congenital cone dysfunction characterized by the absence of functional long wavelength-sensitive (red) and medium wavelength-sensitive (green) cones in the retina. Colour discrimination is severely impaired from birth, and vision is derived from the preserved short wavelength-sensitive (blue) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, photophobia and patients often have myopia. BCM affects approximately 1 in 100,000 individuals (see review Gardner et al. 2009). The mutation C203R causes non-functional green and red cones (Nathans et al. 1989, Nathans et al. 1993, Reyniers et al. 1995).

Literature References
PubMed ID Title Journal Year
1302020 Defective colour vision associated with a missense mutation in the human green visual pigment gene

Winderickx, J, Sanocki, E, Lindsey, DT, Teller, DY, Motulsky, AG, Deeb, SS

Nat Genet 1992
8213841 Genetic heterogeneity among blue-cone monochromats

Nathans, J, Maumenee, IH, Zrenner, E, Sadowski, B, Sharpe, LT, Lewis, RA, Hansen, E, Rosenberg, T, Schwartz, M, Heckenlively, JR

Am. J. Hum. Genet. 1993
11772996 The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes

Jagla, WM, Jägle, H, Hayashi, T, Sharpe, LT, Deeb, SS

Hum. Mol. Genet. 2002
8666378 Gene conversion between red and defective green opsin gene in blue cone monochromacy

Reyniers, E, Van Thienen, MN, Meire, F, De Boulle, K, Devries, K, Kestelijn, P, Willems, PJ

Genomics 1995
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
2788922 Molecular genetics of human blue cone monochromacy

Nathans, J, Davenport, CM, Maumenee, IH, Lewis, RA, Hejtmancik, JF, Litt, M, Lovrien, E, Weleber, R, Bachynski, B, Zwas, F

Science 1989
Participants
Input
Participates
as an event of
Normal reaction
OPN1MW binds 11cRAL (Homo sapiens)
Functional status

Loss of function of OPN1MW C203R [photoreceptor disc membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
blue cone monochromacy DOID:0050679 blue cone monochromatism
red-green color blindness DOID:13909 Deutan defect, Deutan defect (disorder), Deuteranopia, Reduced red-green discrimination (finding)
Authored
Jassal, B  (2012-09-12)
Reviewed
Blaner, WS  (2013-01-31)
Created
Jassal, B  (2012-09-12)
Cite Us!