Medindia
Advertisement

Researchers Identify Gene Flaw That Strips Color Vision from Your Eyes

by Bidita Debnath on June 3, 2015 at 12:14 AM
Font : A-A+

Researchers Identify Gene Flaw That Strips Color Vision from Your Eyes

Researchers have identified a previously unknown gene mutation that plays a major role in inherited eye disorder that makes people see the world in black and white.

People with the eye disorder achromatopsia are extremely sensitive to light and totally or predominantly colorblind. This type of colorblindness is different from the more common version, which makes some people unable to distinguish between red and green, the researchers explained.

Advertisement

"There are whole families with this sort of vision problem all over the world," said senior study author Jonathan Lin, associate professor at University of California, San Diego School of Medicine. "We are very excited to have discovered a mutation in the ATF6 gene which plays a major role in this disorder," Lin said.

Five other genetic mutations have previously been identified by research groups as pivotal in achromatopsia, which causes markedly reduced visual acuity and very poor or no color vision. "But we still had families that did not have any of those gene mutations. We knew this meant there must be other genes and proteins involved," Lin said.
Advertisement

The study, which involved an international collaboration of inherited retinal disease specialists, found that a mutation in the ATF6 gene damaged proteins necessary for proper function of the eye's cone photo-receptors.

The eye has millions of these receptors, which control color recognition and daytime vision. In achromatopsia, malfunction of the cone photoreceptors causes sufferers to be either totally or predominantly colorblind.

"Achromatopsia sufferers see images on the gray scale," Lin said. They also have problems with visual acuity and sensitivity to light. As levels of light increase, their vision decreases. Disease severity varies from person to person.

In the study, the scientists looked at 18 achromatopsia patients from 10 different families who had been identified as lacking the five previously known gene mutations. All 18 were found to have the ATF6 gene mutation.

The study was published online in the journal Nature Genetics.

Source: IANS
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
News Category
What's New on Medindia
Gonorrhea
World Alzheimer's Day 2021 - 'Know Dementia, Know Alzheimer's
'Hybrid Immunity' may Help Elude COVID-19 Pandemic
View all

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
DNA Finger Printing Vision Colors and Moods Weaver Syndrome Pink Eye Symptom Evaluation Color Blindness 

Recommended Reading
Sedentary or 'Sitting' Time, Watching Television Increases Risk of Diabetes
Study revealed that every hour you spend watching television or doing nothing a day, you increase .....
Birth of a Child Dramatically Changes the Division of Labor in Couples
After a baby's birth, women's household workload increases by two hours a day, while men's total ......
InvisionHeart Receives FDA Clearance for Its Mobile ECG Technology
The cloud-based ECG solution for capturing and managing 12-lead ECGs will be available for clinical ...
Color Blindness
Color blindness is a visual disorder of perceiving parts of the color spectrum. Color blindness test...
Colors and Moods
Study of the psychology of color, technically termed as chromology delves into the influence of colo...
DNA Finger Printing
DNA fingerprinting is a technique which helps forensic scientists and legal experts solve crimes, id...
Pink Eye Symptom Evaluation
Pink eye, is the redness in the eye, which is caused due to inflammation of the conjunctiva. Conjunc...
Weaver Syndrome
Weaver syndrome is a genetic disorder in which children show accelerated bone growth, advanced bone ...

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2021

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use