The Genetics of Glaucoma | Glaucoma Research Foundation

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Exfoliation glaucoma (XFG), also called pseudoexfoliation glaucoma, affects millions and is the most common identifiable form of open-angle glaucoma in the world. XFG results from exfoliation syndrome, a common condition characterized by the deposit of white protein-like material that forms on the lens and within the fluid drainage system of the eye, as well as tissues throughout the body. Genetic variants of LOXL1 and CNTNAP2 genes have been associated with XFG. Researchers are currently working on how these genes contribute to the formation of these protein deposits and how these cause glaucoma.

In summary, there has been a remarkable expansion of our understanding of the genetic underpinnings of the major forms of glaucoma. At the moment these advances in our knowledge are tantalizing since these genetic discoveries are not yet at the stage that they can be put to practical use. We still don’t quite understand how these gene abnormalities actually cause glaucoma, However, as research progresses, these discoveries hold the promise that we will soon know much more about the mechanisms by which glaucoma occurs and we will hopefully begin to develop treatments that may be specific to each of the different mechanisms of glaucoma caused by these different gene abnormalities.


Article by Yutao Liu, MD, PhD and R. Rand Allingham, MD.

Yutao Liu, MD, PhD is an Assistant Professor at Duke University School of Medicine in the Departments of Medicine and Ophthalmology and the Director of Duke University Molecular Genomics Core facility in Durham, North Carolina.

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