confers risk of low vision and blindness in high myopia

Journal: Nature Communications

Published: 2018-05-03

DOI: 10.1038/s41467-018-03649-3

Affiliations: 8

Authors: 20

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Research Highlight

Genetics of severe short-sightedness brought into focus

© RUNSTUDIO/Getty

© RUNSTUDIO/Getty

A newly discovered gene variant confers an increased risk for blindness and other complications of severe short-sightedness.

Analysis of DNA from a large community-based cohort study first led to the identification of the common susceptibility variant on the long arm of chromosome 18. The Japan-led research team then joined forces with clinicians from Tokyo Medical and Dental University, and elsewhere, to confirm the genetic link with degenerative eye disease among groups of patients diagnosed with severe short-sightedness, also known as high myopia.

The researchers showed that people with high myopia whose DNA has a C instead of an A in a non-coding region of a gene called CCDC102B are about 40% more likely to experience loss of tissue in the retina and its supporting structures. The gene variant was not, however, associated with the occurrence of short-sightedness to begin with.

The findings offer a promising drug target for preventing blindness and vision loss among those at high risk of myopia’s worst outcomes.

Supported content

  1. Nature Communications 9, 1782 (2018). doi: 10.1038/s41467-018-03649-3
Institutions FC
Department of Ophthalmology and Visual Sciences, Kyoto University, Japan 0.40
Center for Genomic Medicine, Kyoto University, Japan 0.23
Department of Ophthalmology and Visual Science, TMDU, Japan 0.20
Singapore Eye Research Institute (SER), SNEC, Singapore 0.08
NUS Department of Ophthalmology, Singapore 0.03
Japanese Red Cross Otsu Hospital, Japan 0.03
Duke-NUS Ophthalmology and Visual Sciences Academic Clinical Program (EYE-ACP), Singapore 0.02
NUS Saw Swee Hock School of Public Health (SSHPH), Singapore 0.02

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