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Normal Function
The OPN1LW gene provides instructions for making a protein that is essential for normal color vision. This protein is found in the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light receptor cells, called rods and cones, that transmit visual signals from the eye to the brain. Rods provide vision in low light. Cones provide vision in bright light, including color vision. There are three types of cones, each containing a specific pigment (a photopigment called an opsin) that is most sensitive to particular wavelengths of light.
The OPN1LW gene provides instructions for making an opsin pigment that is more sensitive to light in the yellow/orange part of the visible spectrum (long-wavelength light). Cones with this pigment are called long-wavelength-sensitive or L cones. In response to light, the photopigment triggers a series of chemical reactions within an L cone. These reactions ultimately alter the cell's electrical charge, generating a signal that is transmitted to the brain. The brain combines input from all three types of cones to produce normal color vision.
The OPN1LW gene is located next to another opsin pigment gene, OPN1MW, on the X chromosome. The OPN1MW gene provides instructions for making a photopigment that is more sensitive to light at middle wavelengths (yellow/green light). Most people have one copy of the OPN1LW gene and one or more copies of the OPN1MW gene on each X chromosome. A nearby region of DNA, known as the locus control region (LCR), regulates the activity of these genes. Only the two opsin pigment genes nearest the LCR, generally the OPN1LW gene and the first copy of the OPN1MW gene, are active in the retina and contribute to color vision.
Health Conditions Related to Genetic Changes
Color vision deficiency
Several kinds of genetic changes involving the OPN1LW gene cause red-green color vision defects, a form of color vision deficiency that makes it difficult or impossible to distinguish between shades of red, yellow, and green. Most red-green color vision defects result from structural rearrangements involving the OPN1LW and OPN1MW genes. Because these genes are so similar, they occasionally swap genetic material when the genes are being passed from parent to child. This swapping, called recombination, can ultimately delete genetic material from one or both genes or lead to the formation of a hybrid pigment gene that contains part of the OPN1LW gene and part of the OPN1MW gene. Less commonly, red-green color defects can result from changes in single DNA building blocks (base pairs) in the OPN1LW gene.
When OPN1LW gene mutations lead to completely nonfunctional L cones, color vision depends entirely on the other two types of cones. The specific type of red-green color vision deficiency that results from a total loss of L cone function is called protanopia. A less severe red-green color vision defect called protanomaly occurs when a partially functional hybrid pigment gene replaces the normal OPN1LW gene. The photopigments made from these hybrid genes usually have abnormal visual properties that impair red-green color vision.
A common variation (polymorphism) in the OPN1LW gene accounts for subtle differences in normal color vision. This change alters a single protein building block (amino acid) in the resulting photopigment, replacing the amino acid serine with the amino acid alanine at position 180 (written as Ser180Ala). Researchers suggest that the Ser180Ala polymorphism also plays a role in determining the severity of color vision loss in people with red-green color vision defects.
A rarer form of color vision deficiency, blue cone monochromacy, severely reduces sharpness of vision (visual acuity) and affects the ability to perceive most colors. This condition also includes other vision problems that are not typically found with red-green color vision defects. Blue cone monochromacy occurs when genetic changes prevent the opsin pigments produced from both the OPN1MW and OPN1LW genes from functioning normally. In some cases, the condition is caused by a deletion of the LCR, which normally controls the activity of the OPN1MW and OPN1LW genes. A loss of the LCR prevents the production of pigments from both genes. As a result, people with this condition have only functional cones with short-wavelength-sensitive photopigment (S cones), which leads to reduced visual acuity and poor color vision. The cone abnormalities also underlie the other vision problems in people with blue cone monochromacy.
More About This Health ConditionOther Names for This Gene
- L-pigment
- long-wave-sensitive pigment
- opsin 1 (cone pigments), long-wave-sensitive
- OPSR_HUMAN
- RCP
- red cone photoreceptor pigment
- red cone pigment
- red-sensitive opsin
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Deeb SS. Molecular genetics of color-vision deficiencies. Vis Neurosci. 2004 May-Jun;21(3):191-6. doi: 10.1017/s0952523804213244. Citation on PubMed
- Deeb SS. The molecular basis of variation in human color vision. Clin Genet. 2005 May;67(5):369-77. doi: 10.1111/j.1399-0004.2004.00343.x. Citation on PubMed
- Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ. Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants. Hum Mutat. 2014 Nov;35(11):1354-62. doi: 10.1002/humu.22679. Citation on PubMed or Free article on PubMed Central
- Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol. 2004 Feb;88(2):291-7. doi: 10.1136/bjo.2003.027102. Citation on PubMed or Free article on PubMed Central
- Neitz J, Neitz M. The genetics of normal and defective color vision. Vision Res. 2011 Apr 13;51(7):633-51. doi: 10.1016/j.visres.2010.12.002. Epub 2010 Dec 15. Citation on PubMed or Free article on PubMed Central
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