Study Identifies Macular-Development Gene

Kent Small, MD, a retina specialist affiliated with the Cedars-Sinai Board of Governors Regenerative Medicine Institute, is the lead author of a study that discovered a gene that controls the development of the human macula. The macula is the central portion of the retina and is needed for normal reading and driving vision. The discovery was electronically published Oct. 24 in the journal Ophthalmology and announced by the University of Iowa's Stephen A. Wynn Institute for Vision Research.

"This is the culmination of more than 20 years of work," said Small. He first mapped the gene causing North Carolina macular dystrophy on chromosome 6 in 1992. The current findings ultimately required an international team of 20 investigators using data from the Human Genome Project and an elaborate computer analysis to identify the actual mutations in intergenic DNA near the PDRM13 gene.

"Individuals with this disease have normal eyes except that they fail to form maculas," Small said. "Understanding how this gene works may help us treat many macular diseases more effectively in the future."

"Scientists already know how to create new retinal cells from a patient's skin," said Edwin Stone, MD, PhD, director of the Wynn Institute for Vision Research and a co-author of the study. "This new finding will help us learn how nature builds a macula so that scientists in the future can reconstruct an injured macula using the patient's own cells."

The study was funded in part by a $25 million gift from Stephen A. Wynn, chairman and chief executive officer of Wynn Resorts, Ltd.

"As a person who knows firsthand what it is like to lose vision from a rare, inherited eye disease, I want to do everything I can to help others who are similarly affected keep the vision they have and eventually get back what they have lost," Wynn said. "I am thrilled by the pace of the scientific progress that has occurred in the past few years, and I feel that the prospect of finding a cure is possible and probable in the short term and certain in the long term."

Citation: Ophthalmology. 2015 Oct. 24: North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.