Decoding Deuteranomaly: A Comprehensive Guide to Understanding, Diagnosing, and Using Genetic Testing

Deuteranomaly

Expert Reviewed By: Dr. Brandon Colby MD

Understanding Deuteranomaly

Deuteranomaly, also known as red-green color blindness, is a genetic condition that affects the way an individual perceives colors. It is the most common type of color vision deficiency, affecting approximately 6% of men and 0.4% of women of European descent. Individuals with deuteranomaly have difficulty distinguishing between red and green hues, which can impact various aspects of their daily lives, such as reading traffic signals, selecting ripe fruits, and interpreting color-coded information.

Deuteranomaly is caused by an alteration in the photopigment gene OPN1MW, which is responsible for the production of the medium-wavelength (M) cone photopigment in the eye's retina. This alteration results in the M cone photopigment having an abnormal spectral sensitivity, causing the affected individual to perceive colors differently.

Diagnosing Deuteranomaly

Deuteranomaly is typically diagnosed through color vision tests, which assess an individual's ability to perceive and differentiate between various colors. The most common color vision test is the Ishihara test, which consists of a series of plates containing colored dots that form numbers or shapes. Individuals with deuteranomaly may struggle to identify the numbers or shapes within the plates, indicating a potential color vision deficiency.

While color vision tests can effectively diagnose deuteranomaly, they do not provide information on the underlying genetic cause of the condition. For a more comprehensive understanding of the genetic basis of deuteranomaly, genetic testing is required.

Using Genetic Testing for Deuteranomaly

Genetic testing can be a valuable tool for individuals with deuteranomaly, as well as their families, by providing information on the specific genetic alterations responsible for the condition. This information can be used to better understand the inheritance pattern of deuteranomaly and assess the risk of passing the condition on to future generations.

Identifying the Genetic Cause

Genetic testing for deuteranomaly involves analyzing the OPN1MW gene to identify any alterations that may be causing the abnormal function of the M cone photopigment. This can be done through various genetic testing methods, such as sequencing or deletion/duplication analysis. Identifying the specific genetic alteration responsible for deuteranomaly can provide valuable information on the inheritance pattern and potential treatment options for the condition.

Understanding Inheritance Patterns

Deuteranomaly is inherited in an X-linked recessive manner, meaning that it is passed down through the X chromosome. Males have one X chromosome (inherited from their mother) and one Y chromosome (inherited from their father), while females have two X chromosomes (one inherited from each parent). As a result, males are more likely to be affected by deuteranomaly, as they only have one X chromosome that can carry the altered gene.

Genetic testing can help families understand their risk of passing deuteranomaly on to future generations by identifying the specific genetic alteration and assessing the likelihood of inheritance based on the family's genetic makeup.

Informing Treatment Options

While there is currently no cure for deuteranomaly, several treatment options can help improve color perception for affected individuals. These treatments include color-correcting glasses and contact lenses, which are designed to enhance color discrimination by filtering specific wavelengths of light. Genetic testing can provide valuable information on the specific genetic alteration responsible for deuteranomaly, which can help inform the most appropriate treatment options for each individual.

Conclusion

Deuteranomaly is a common genetic condition that affects color perception, impacting various aspects of an individual's daily life. Genetic testing can provide valuable information on the underlying cause of deuteranomaly, inform treatment options, and help families understand the inheritance patterns and potential risk of passing the condition on to future generations. With advances in genetic testing and a better understanding of the genetic basis of deuteranomaly, individuals and families affected by this condition can make more informed decisions about their health and well-being.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠ACMG), an Associate of the American College of Preventive Medicine (⁠ACPM), and a member of the National Society of Genetic Counselors (NSGC)