Defective OPN1MW causes COD5

Stable Identifier
R-HSA-2471641
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
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).

Defects in OPN1MW cause X-linked cone dystrophy type 5 (COD5; MIM:303700), a retinal dystrophy characterized by progressive degeneration of cone photoreceptors but with preserved rod function. The W177R missense mutation in both the LW-sensitive (red) and MW-sensitive (green) cone opsin genes results in protein misfolding and retention in the endoplasmic reticulum which can lead to COD5 (Gardner et al. 2010).

Literature References
PubMed ID Title Journal Year
20579627 X-linked cone dystrophy caused by mutation of the red and green cone opsins

Gardner, JC, Webb, TR, Kanuga, N, Robson, AG, Holder, GE, Stockman, A, Ripamonti, C, Ebenezer, ND, Ogun, O, Devery, S, Wright, GA, Maher, ER, Cheetham, ME, Moore, AT, Michaelides, M, Hardcastle, AJ

Am. J. Hum. Genet. 2010
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
cone-rod dystrophy 0050572 cone-rod retinal dystrophy
Authored
Reviewed
Created