Researchers from University of Alberta claim to have uncovered a part of the mystery underlying the cause of glaucoma, a childhood eye disease that often leads to blindness.
Previous studies have shown that missing or extra bits of DNA called copy number variations are responsible for some types of glaucoma in kids.
In the new study, the research team showed how these CNVs that cause childhood glaucomas are formed.
With the help of the genetic samples from patients living with pediatric glaucoma, the research team studied the locations where extra or missing pieces of DNA begin and end.
They examined these points closely and determined how these copy number variations occur.
"Our findings broaden the mechanisms known to cause copy number variations, which improves our understanding not only of pediatric glaucoma, but also of the growing number of genetic diseases linked to copy number variations, including heart disease and psoriasis," said Dr. Ordan Lehmann, an associate professor with the Faculty of Medicine and Dentistry at the University of Alberta and an ophthalmologist with Alberta Health Services.
"We're really only looking at the tip of the iceberg in terms of how CNVs cause disease.
"These findings will also help us to improve the detection of pediatric glaucoma and, by allowing earlier diagnosis, will help lead to earlier treatment of this condition," Lehmann added.
The study is published in Human Molecular Genetics.