Visual Universitätsmedizin Mainz

14. Juni 2018

161 genetic factors for myopia identified

Researchers at the Mainz University Medical Center participate in a genetic study investigating the role of light in the development of myopia

The international Consortium for Refractive Error and Myopia (CREAM) recently published the worldwide largest genetic study of myopia in Nature Genetics. Researchers from the Gutenberg Health Study at the Medical Center of Johannes Gutenberg University Mainz participated in this study, which identified 161 genetic factors for myopia. This quadruples the number of known genetic risk factors playing a role in all retinal cell types. Most of them are involved in processing light. This supports the assumption that insufficient sunlight is an important trigger in the development of myopia.

Myopia, also known as short-sightedness or near-sightedness, is the most common disorder affecting the eyesight and it is on the increase. This is particularly worrying for severely short-sighted people as it increases their risk of developing eyesight complications. The causes are both genetic and environmental.

The international research group CREAM, which includes scientists from the Gutenberg Health Study of the Mainz University Medical Center, has now made important progress towards understanding the mechanisms behind the development of the condition. They evaluated the data of more than 250,000 people from Europe, Asia, and North America in cooperation with gene test provider 23andme.

The study established 161 genetic factors for spherical equivalent and myopia, most of which were previously unknown. It became clear that all retinal cell types play a role in the development of myopia alongside their primary role as light processors. This supports the theory that the internal layer of the eye communicates with the external layer to increase the length of the eye, which is a decisive factor in the development of myopia.

"We have known for some time that education-related behavior is a major environmental factor in developing short-sightedness", said co-author Professor Norbert Pfeiffer, Head of the Department of Ophthalmology at the Mainz University Medical Center. It was unclear which role close-up work during reading plays in the process, or if lack of sunlight is responsible. The new results provide important insights into the underlying biological mechanisms. They also support the most important advice Pfeiffer can give to concerned parents as a preventive measure against myopia: "Send your kids to play outside for two hours every day. And it's not just their eyes that will benefit."

The spread of short-sightedness is a worldwide phenomenon, particularly in South East Asia, where the incidence of myopia in school children has increased notably over the last decades. This is likely due to rising levels of education. People who read a great deal also perform a lot of close-up work, usually in poor levels of daylight. The eye adjusts to these visual habits and the eyeball becomes more elongated than normal as a result. But if it becomes too elongated, the cornea and lens focus the image just in front of the retina instead of on it, making distant objects appear blurry.

 

Publication
Tedja, Milly S. et al., Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error, Nature Genetics 50, 834-848,
DOI:10.1038/s41588-018-0127-7
https://www.nature.com/articles/s41588-018-0127-7

 

Related link
http://www.gutenberghealthstudy.org/ghs/overview.html?L=1 – Gutenberg Health Study

 

Contact
Professor Dr. Norbert Pfeiffer
Head of the Department of Ophthalmology
Mainz University Medical Center
Langenbeckstr. 1
55131 Mainz, GERMANY
e-mail:  norbert.pfeiffer@unimedizin-mainz.de


Press Contact
Oliver Kreft
Press and Public Relations
Mainz University Medical Center
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55131 Mainz, GERMANY
phone +49 6131 17-7424
fax +49 6131 17-3496
e-mail:  pr@unimedizin-mainz.de
http://www.unimedizin-mainz.de/index.php?id=240&L=1

 

 

About the University Medical Center of Johannes Gutenberg University Mainz

The University Medical Center of Johannes Gutenberg University Mainz (JGU) is the only medical institution of supra-maximum supply in Rhineland-Palatinate and an internationally recognized science location. It comprises more than 60 clinics, institutes, and departments working interdisciplinary. Highly specialized patient care, research, and teaching form an inseparable unit in the Mainz University Medical Cente. Around 3,400 students of medicine and dentistry are trained in Mainz. With approximately 7,800 employees, the Mainz University Medical Center is also one of the largest employers in the region and an important driver of growth and innovation. More information is available online at http://www.unimedizin-mainz.de/index.php?id=240&L=1

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