Dr. Grossman’s Blog

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Researchers in Australia are working to unravel the genetic code of two related eye conditions: glaucoma and myopia.

Teams across the world have been building upon one another’s work to pinpoint the Caveolin that is thought to be responsible for glaucoma.  These same researchers are also working with the results of studies in Europe that show the genes GJD2 and RASGRF1 to be related to the development of myopia.

Both of these discoveries rely on using Twins Eye Study to corroborate the researchers findings.  Twins studies are essential to genetics twins share nearly 100% of their genetic polymorphisms and can help scientists determine whether conditions are causes by inherited or genetic factors.

Source: http://www.news.uwa.edu.au/201009152874/international/genetic-discovery-offers-new-hope-eye-diseases

For more on how to prevent and treat myopia visit this site.

If you are interested in the prevention and treatment of glaucoma, have a look at this information.

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Scientists have found a gene that may be responsible for the progressive eye disease Fuchs corneal dystrophy (FCD). Published in the New England Journal of Medicine, the study concludes that people with a gene called transcription factor 4 are five times more likely to develop FCD.

HealthDay reports that Senior study author Albert Edwards tells them that, “understanding the genetic predisposition for FCD may be helpful for selecting participants for future studies on the condition, especially for research aimed at understanding if this genetic risk predicts its progression. Developing a genetic test for FCD could also help surgeons avoid transplanting donor corneas that might eventually develop the disease.”

Source: http://health.allrefer.com/news/20100825642472/study-links-gene-to-serious-eye-disease.html

Some people have reported positive results when trying to treat FCS naturally.

In glaucoma, cells in the optic nerve die, preventing the brain from understanding what patients see.

Scientists have long believed that there is a link between a gene named WDR36 and glaucoma, but have been unable to determine what the gene does and why some people with variations of the gene get glaucoma while others don’t.

University of Alberta geneticist, Dr. Michael Walter, has published results of a new study which help to explain this link. 

“Our results suggest that glaucoma is polygenetic, which means there have to be changes in several different genes in order for WDR36 to cause the disease,” said Walter, a professor and chair of the Department of Medical Genetics in the Faculty of Medicine & Dentistry.  This finding helps explain why only some people who have WDR36 gene variations get glaucoma.

“Only 10 per cent of glaucoma cases are caused by known genes, so the genes involved in this polygenetic interaction may help to explain the other 90 per cent,” said Walter, who is also a professor in the Department of Ophthalmology.

The WDR36 gene normally helps make ribosomes, specialized molecules that make the proteins necessary to keep the cell functioning.  Dr. Walter suspects that changes to WDR36 will affect ribosome production, and in turn affect the cell’s ability to function.

In addition to this mutation, changes also have to happen to the STI1 gene, which normally packages the proteins produced by WDR36′s ribosomes.  Glaucoma occurs when WDR36 isn’t producing ribosomes properly and STI1 isn’t packaging those proteins properly.  Both mutations must be present to cause the disease.

This DNA detective work may have a tangible impact on preventing and treating glaucoma, as it may help doctors learn to treat the disease rather than just the symptoms.

Learn more about glaucoma

SOURCE:  “Genetic Sleuth Solves Glaucoma Mystery”, University of Alberta Express News, March 20, 2009, http://www.expressnews.ualberta.ca/article.cfm?id=10052.