Color Vision Deficiency and the new Glasses on Facebook

Color vision deficiency, also known as colorblindness, is more common than one might think. 0.6 percent of women and 8 percent of men are born with colorblindness. The causes can be widespread, but the most common types of color vision deficiency are inherited.

How do we see color, and what is the reason for color vision deficiency?

Light, as a wave, enters the eye through the pupil, and lands on the retina, the collection of cells on the back of your eye. The retina has cells called cone cells and rod cells. Rod cells can be stimulated by a very small amount of light, however they have a molecule called rhodopsin in them, which cannot differentiate between different wavelengths. Cone cells require more light to be stimulated, but they have photopsin in them which can help our brains differentiate between the different wavelengths of light. This is why cone cells allow us to perceive color. All cone cells do not have the ability to differentiate all colors of light though. There are 3 types of cone cells, and each is stimulated by a different range of wavelengths due to the type of photopsin it possesses.

Because the ranges overlap for some wavelengths, sometimes cones can work together to differentiate certain colors. For example, the wavelength 625 nm, which corresponds to the color yellow, stimulates both red cones and green cone cells. Both of these cell types accept the 625 nm wave and send the signal to your brain that allows you to perceive yellow.

There are several different kinds of color blindness, and the different kinds can be brought about by different causes. Sometimes colorblindness is caused because there is an absence of one or more types of photopsin in the cone cells on the retina. Other times it is caused because the photopsin in the cone cells is absorbing a range of wavelengths that is abnormal.

Dichromacy is a type of color blindness where the subjects only possess 2 of the 3 normal photopsin types. Protanopia is a condition where the subject has normal green and blue photopsin molecules, and defective or absent red photopsin molecules. Deuteranopia is a condition in which the subject has normal blue and red photopsin molecules, and defective or absent green photopsin molecules.

Trichromacy is a condition in which subjects possess all three photopsin types, but one of more of the photopsin types on their retinas absorbs an abnormal wavelength range. One of the most common forms of colorblindness is red-green color vision deficiency. This is caused either when the wavelength absorption peak for the red photopsin molecules is shifted toward the lower wavelengths (i.e. closer to the green wavelength absorption peak), or when the green wavelength absorption peak gets shifted toward the higher wavelengths (i.e. closer to the red wavelength absorption peak). These abnormalities are called protanomaly and deuteranomaly, respectively, and both of them cause an individual to have a lower ability to distinguish the difference between red and green.

The approximate retinal response of individuals with deuteranomaly. The retinal response of individuals with protanomaly looks similar, with the green and red cone peaks close together. This is what gives those individuals trouble with distinguishing differences between red and green colors. 

If you’ve been on Facebook recently, you may have seen videos of the reactions of colorblind people putting on colorblind glasses. En-chroma is a brand that has popularized what they call “color blind lens technology”. The technology works by selectively excluding wavelengths of light where the red and green peaks overlap. These wavelengths stimulate both the green and red cones at high levels in individuals with protanomaly and deuteranomaly. Because the glasses filter out these wavelengths, it helps the individual to see more differences between red and green!

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  Timothy Durham was convicted of rape when a test showed his DNA genotype matched the DNA recovered from the crime scene. Eye witnesses testified that Durham was in a different state at the time of the incident, but he wasn’t exonerated from his 3000 year sentence until follow up DNA analysis showed that the preliminary forensic analysis used in the trial was misinterpreted (Thomas et al.). DNA testing serves an invaluable part in our criminal justice system, but it comes with complications and bias that can lead to wrongful convictions and misinformed juries.  

Background:

Forensic genetics aims to identify the origin of a biological sample. It can be traced back to Karl Landsteiner who discovered human ABO blood groups. With blood groups, suspects could be eliminated based on their blood type. For example, if a suspect had type A blood and there was type B blood left at the scene by the perpetrator, the investigators could rule out the suspect. Unfortunately, the reverse didn’t work. If the suspect and perpetrator both had the same blood type, it can’t be concluded that the suspect was guilty. Blood identifiers evolved into 8 distinct categories which improved the ability to eliminate suspects, but could only conclude that (if the system matched) it might be the perpetrator or this person might be related to the perpetrator (Jobling and Gill). The field evolved in the 1980s with the discovery of Minisatellites, lines of repetitive DNA that don’t encode proteins. Minisatellite patterns in DNA create what we know today as the DNA fingerprint, and it has a much higher accuracy rate than previous methods (Augustyn et al.). Around the same time, a breakthrough for victims of sexual assault was discovered. In the case of assault, bodily fluids of both the victim and the assaulter can get mixed. A process called differential lysis was created which could selectively increase the concentration of sperm in a fluid sample thereby allowing for accurate DNA testing (Jobling and Gill). Forensics evolved to use single-locus probe testing after several years because of its ease of interpretation. It looked at specific minisatellites that had high variability between subjects. This was the first DNA-based method to be used in a criminal investigation. Two murder homicides from several years apart were connected using DNA evidence. The evidence was then used to exonerate an innocent man, and the guilty party was found when he tried to evade mandatory DNA testing for all men in the small town. His guilt was then reinforced when the DNA profiles matched, and he gave a confession (Jobling and Gill). Finding DNA at a crime scene doesn’t guarantee that you’ll find a murderer. There are issues with non-pure samples and limited samples that make DNA work difficult, and accreditation of facilities and new techniques and take time (Jobling and Gill).  

Subjectivity of DNA Interpretation:

In a 2009 publication, the National Academy of Science discusses the possibility for subjective influence in lab based forensics. The interpretation bias happens in complex cases where, for example, there could be a mixture of DNA. A study published in 2011 looked specifically at this issue. A gang rape happened in Georgia, and the mixture in DNA from the case was used to prosecute one suspect after another suspect took a plea bargain to testify against him. With DNA mixtures, there are three possible conclusions: suspect excluded, suspect cannot be excluded, and inconclusive. If the suspect is excluded, it means that there’s little to no possibility that his DNA is part of the sample. If the suspect cannot be excluded, it means that there’s a possibility that his DNA is part of the sample. In the trial, the DNA examiners who knew the context of the case concluded that the suspect being prosecuted could not be excluded. The 2011 study gave the DNA evidence from this case and the DNA profiles of the suspects to 17 forensic examiners. These examiners had no context of the case, and they all worked independently. Of the 17, only 1 came to the same conclusion (suspect cannot be excluded) as the examiners who knew the context of the case. Twelve of the 17 concluded that the suspect who was prosecuted and convicted had no relation to the DNA found in the sample. Not only does this show that subjectivity occurs due to the context of the case, but the 17 examiners came up with different findings based on their past experiences meaning that not all DNA analysis is objective. Some organizations like the Scientific Working Group on DNA Analysis Methods say that quantitative statistical evidence should be presented with every categorical conclusion, but the US doesn’t require this (Dror and Hampikian).

False Positives:

There are two categories that cause wrongful identification in a DNA report: coincidental matches and false positives. Coincidental matches are DNA matches between two unrelated people. The probability of these matches is about 1 to 500,000 for white individuals and about 1 to 350,000 for black individuals. This small probability of coincidental matches makes people feel confident in DNA evidence. False positives, on the other hand, are matches between DNA and test DNA that result from issues in the forensics lab. There have been multiple cases of forensics labs accidentally switching victim and suspected rapist DNA which lead to convictions that were later overturned when the lab realized the error. There are also cases of misreading or misunderstanding a sample. In a case from 1993, a man was convicted of rape because someone interpreted a mixed sample of victim and perpetrator DNA as an individual sample. The conviction was again overturned. To prevent false convictions, retesting DNA is allowed, but it’s not an efficient solution. Many people are pushing for statistical information on the probability of false positives, so that the jurors can make accurate judgements based on DNA evidence (Thomas et al.).  

Conclusion:

DNA analysis is a useful tool for the criminal justice system, but subjectivity can be an issue in forensic testing. To combat wrongful convictions, there are organizations like The Innocence Project who use DNA testing to free the innocent, but reformed forensic testing standards should be put in place to prevent subjectivity and to ensure juries are correctly informed during trials. https://www.innocenceproject.org/    

Citation:

Augustyn , Adam, et al. “DNA Finerprinting.” Encyclopedia Britannica , 26 Apr. 2018, www.britannica.com/science/DNA-fingerprinting#ref153186. Dror, Itiel E., and Greg Hampikian. “Subjectivity and Bias in Forensic DNA Mixture Interpretation.” Science & Justice, vol. 51, no. 4, 2011, pp. 204–208., doi:10.1016/j.scijus.2011.08.004. Jobling, Mark A., and Peter Gill. “Encoded Evidence: DNA in Forensic Analysis.” Nature Reviews: Genetics, vol. 5, no. 10, Oct. 2004, pp. 739–751., doi:10.1038/nrg1455. Thompson, William C, et al. “How the Probability of a False Positive Affects the Value of DNA Evidence.” Journal of Forensic Sciences, vol. 48, no. 1, Jan. 2003, pp. 1–8., doi:10.1520/jfs2001171.