Blindness Research

Researchers Identify New Gene Causing Blindness
Posted: 02.03.2011

Stephan Zuchner, M.D., Ph.D., Julia Dallman, Ph.D., Margaret A. Pericak-Vance, Ph.D., and, from Bascom Palmer Eye Institute, Byron Lam, M.D., and Rong Wen, Ph.D.
Work was collaborative effort of several departments at the University of Miami
Researchers at the University of Miami Miller School of Medicine have identified a new gene that causes retinitis pigmentosa, a form of blindness, ending one South Florida family’s nearly 20-year search for what caused three of their four children to lose their sight.
The Lidsky children, who are now in their 30s, began to lose their sight in their teens. Their parents, Betti and Carlos, had the family’s DNA tested for more than 50 retinitis pigmentosa (RP) genes. No one found the link until they began working with UM researchers in late 2009. By the summer of 2010, researchers had found the cause of their retinitis pigmentosa using exome sequencing and confirmed it with zebrafish studies.
“For 18 years, we have been searching for the genetic cause of this disease and UM researchers have found it,” Mrs. Lidsky said. “We’ve wanted this for some time. These researchers are truly our heroes. They are doing life-changing work that will benefit not only our family but many other people. We are truly grateful for all their hard work.”
The result of the work, a paper titled “Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa,” was published online Thursday, February 3, in the American Journal of Human Genetics. To identify the gene responsible for retinitis pigmentosa in the Lidsky family, researchers used a new technology known as whole exome sequencing, which thoroughly investigates the coding portions of an individual’s genetic material. The RP gene identified in this family codes for an enzyme known as dehydrodolichol diphosphate synthase or DHDDS, which is thought to play a role in how a light-sensing protein named rhodopsin works....