Scientists ID Variants Associated with Glaucoma

“The identification of genetic variants associated with risk of developing glaucoma is reported in three independent studies published online this week in Nature Genetics. These findings may lead to better diagnostic tools or therapies for glaucoma,” goes the Medical News Today post. “In one study, Zhenglin Yang and colleagues find variants near two genes, ABCA1 and PMM2, which are associated with glaucoma risk, with or without high inner eye pressure, in individuals from China and Singapore. Both genes have been previously implicated in other eye disorders, but not glaucoma. In a second study, Puya Gharahkhani and colleagues identify variants near three genes, including ABCA1, that are associated with glaucoma risk in Australians and Americans of European descent. A third study by Christopher Hammond and colleagues combines genetic data from 18 populations, including people of Asian and European descent, and also identifies ABCA1 as a risk gene for both high inner eye pressure and glaucoma. Two other genetic variants were also linked to both of these conditions in this last study.” Read more.

New Developments in Genetic Testing and Cataract Removal

This month's Ophthalmology, the journal of the American Academy of Ophthalmology, reports on two new tools for diagnosis and care of inherited eye diseases and cataract surgery. 

1. Scientists in top genetics centers in the Netherlands have taken the first step toward large scale, inexpensive genetic testing for eye diseases. Their new retinal DNA re-sequencing chip and patient pooling strategy enables detection of multiple retinal disease gene sequences in multiple patients, at the same time. The chip is fully validated for DNA diagnostic purposes, and an upgraded version will be available in early 2011 at the Netherlands Institute for Neuroscience, Amsterdam....
2. Who is most likely to benefit from cataract removal? How much improvement in vision and quality of life can people expect after surgery? Cataract removal is the most common surgery in the United States and many other countries, but surprisingly, until now there has been no standard assessment tool to help doctors and health planners answer these questions. A Spanish research group recently developed such a tool and validated it in a large, diverse study population....