A research team led by University of Iowa Health Care investigators has identified a gene that, when mutated, causes a hereditary form of blindness. Sheffield and his colleagues believe that they and other investigators can use the model for the ESCS investigation to study other forms of blindness and their possible genetic causes. The researchers then looked at DNA samples from the laboratory of Edwin Stone, M.D., Ph.D., UI professor of ophthalmology and visual sciences. The researchers then went on to find an additional 27 individuals with ESCS who had mutations to the NR2E3 gene. Rods allow an individual to distinguish between dark and light, but not colors.
Rods help in night vision.
Cones allow a person to see colors. The short wavelength cone, or S cone, is usually the rarest type of cone. The enhanced S cones production is what makes ESCS so interesting, Sheffield said. The study was supported in part by Public Health Service research grants, the Foundation Fighting Blindness, the Grousbeck Family Foundation, the Carver Charitable Trust and the Horvitz Family Foundation. University of Iowa Health Care describes the partnership between the UI College of Medicine and the UI Hospitals and Clinics and the patient care, medical education and research programs and services they provide.