Published January 23, 2012
The grant supports the department’s ongoing studies into the fundamental biology and physiology of ocular tissues and the causes of eye diseases such as age-related macular degeneration, retinopathy of prematurity, corneal disease and glaucoma.
A portion of the funds will be used to support the department’s Distinguished Lectures in Vision Science series, which brings some of the world’s most prominent vision scientists to UB to discuss their research.
James D. Reynolds, MD, professor and chair of the department, is the grant’s principal investigator. Steven J. Fliesler, PhD, Meyer H. Riwchun Endowed Chair Professor and the department’s vice chair and director of research, will help coordinate investigations that faculty conduct under the grant.
In the past year, UB ophthalmology researchers, supported by RPB funds, have made several key discoveries that advance understanding of eye diseases.
In a study led by Reynolds, they developed a method to distinguish between two causes of congenital abduction deficit—the reduction of the eye’s ability to move outward—in young children.
“Duane syndrome and sixth-cranial-nerve palsy present similar abduction deficits, but we showed they cause different deviations from a straight-ahead, or primary position, gaze,” explains Reynolds.
“By improving physicians’ ability to diagnose these conditions,” he adds, “we are helping doctors provide better care for their young patients.”
Collaborating with colleagues at Vanderbilt University, UB research scientists found a biomarker for Smith-Lemli-Opitiz syndrome (SLOS), a hereditary disorder of cholesterol metabolism that, among other things, results in retinal dysfunction and degeneration.
“We identified several oxysterols derived exclusively from 7-dehydrocholesterol (7DHC), an immediate precursor of cholesterol that is the biochemical hallmark of SLOS,” says Fliesler, a research health scientist at the Buffalo VA Medical Center
“We believe these oxysterols exacerbate the disease, so finding ways to block their formation may lead to novel therapeutic interventions for SLOS and related diseases.”
A research team led by Xiuqian Mu, MD, PhD, characterized molecular interactions among several distinct transcription factors underlying how retinal cells differentiate, especially ganglion cells. The researchers also identified their target genes and roles in retinal ganglion cell formation.
“This work has the potential to provide essential new insights into the causes of hereditary retinal diseases, as well as glaucoma, and to guide the development of new treatments for these diseases,” Fliesler explains.