Genetics of glaucoma can help with disease diagnosis, treatment

New Orleans-As the understanding of the genetics of glaucoma advances, it may one day be possible for people to obtain a cheek swab that will determine their risk of developing glaucoma.

Specific medications could be developed that would replace a defective protein and prevent the onset of ganglion cell damage. Such things are within the realm of possibility, but they are likely to take longer to occur than when gene therapy was new some 10 years ago, said Wallace L.M. Alward, MD, professor of ophthalmology, University of Iowa.

While presenting the annual American Glaucoma Society subspecialty day lecture, Dr. Alward noted that much has been learned despite the fact that some goals are yet unrealized. For example, six known genetic loci and two genes have been identified for open-angle glaucoma, and some genetic testing is available.

However, generalized genetic screening for glaucoma is currently impractical because the genes identified so far are responsible for only a small percentage of cases. Clinical use of gene therapy is also a distant goal, Dr. Alward said.

Still, each discovery over the past decade has provided a piece of what appears to be a very big puzzle, and for the near future, a goal to strive for is to slow progression enough so that people have good vision until the time of their death, he added.