UTHSC Researchers Unravel Genetics of Iris Disease

Memphis, Tenn. (June 26, 2013) – When it comes to the iris of the eye, most people are focused on its color – green, blue, brown and so on. But a group of scientists at the University of Tennessee Health Science Center (UTHSC) are researching the genetics of iris diseases and have recently published a paper online in the journal Pigment Cell and Melanoma Research. For the first time, new pigmentation genes were identified as key players in the eye pigmentation causing iris transillumination defects that could possibly lead to pigment dispersion glaucoma. Transillumination in the eye is the technique of illumination by transmission of light through the pupil in the eye. Transillumination is used in a variety of methods of imaging.

The paper titled, “Genetic modulation of the iris transillumination defect: a systems genetics analysis using the expanded family of BXD glaucoma strains,” was penned by Shankar Swaminathan, PhD, a postdoctoral researcher working with Monica M. Jablonski, PhD, FARVO, professor of Ophthalmology at the UTHSC Hamilton Eye Institute and of the UTHSC Anatomy and Neurobiology Department. Robert W. Williams, PhD, and Lu Lu, PhD, both professors in the UTHSC Department of Anatomy and Neurobiology, were instrumental in the study. Hong Lu, MD, who currently works at the Affiliated Hospital of Nantong University, Nantong, China, was also one of the co-authors. These analyses were made possible using the valuable Hamilton Eye Institute Mouse Eye Database generated by Eldon Geisert, PhD, in the UTHSC Department of Ophthalmology. The full paper can be viewed at: http://onlinelibrary.wiley.com/doi/10.1111/pcmr.12106/full.

“Additional screening methods can be used to determine the genetic complexities of other multifaceted polygenetic diseases such as glaucoma, age-related macular degeneration, Alzheimer’s disease, and diabetes,” Dr. Jablonski noted. In 2012, the research received the ARVO-Members-in-Training outstanding poster during the Association for Research in Vision and Ophthalmology (ARVO) annual meeting.