OPN1SW
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Gene summaries condense public reference material; disease links and population data change as databases are updated. Clinical decisions belong with your care team.
opsin 1, short wave sensitive
Normal Function
Health Conditions Related to Genetic Changes
Color vision deficiency
At least six mutations in the OPN1SW gene have been found to cause a relatively uncommon form of color vision deficiency called blue-yellow color vision defects or tritan defects. These defects cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. Each of the known OPN1SW gene mutations changes a single protein building block (amino acid) in the short-wave-sensitive photopigment, which causes the photopigment to be partially or totally nonfunctional. Researchers suggest that S cone cells without functional photopigment die prematurely or cannot transmit visual signals to the brain normally.
When OPN1SW gene mutations lead to completely nonfunctional S cones, color vision depends entirely on the other two types of cones. The specific type of blue-yellow color vision deficiency that results from a total loss of S cone function is called tritanopia. A less severe blue-yellow color vision defect called tritanomaly occurs when S cones function abnormally.
More About This Health ConditionRelated Conditions
Color vision deficiency
Health Conditions Related to Genetic Changes
At least six mutations in the OPN1SW gene have been found to cause a relatively uncommon form of color vision deficiency called blue-yellow color vision defects or tritan defects. These defects cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. Each of the known OPN1SW gene mutations changes a single protein building block (amino acid) in the short-wave-sensitive photopigment, which causes the photopigment to be partially or totally nonfunctional. Researchers suggest that S cone cells without functional photopigment die prematurely or cannot transmit visual signals to the brain normally.
When OPN1SW gene mutations lead to completely nonfunctional S cones, color vision depends entirely on the other two types of cones. The specific type of blue-yellow color vision deficiency that results from a total loss of S cone function is called tritanopia. A less severe blue-yellow color vision defect called tritanomaly occurs when S cones function abnormally.