Diagnosing retinitis pigmentosa just became easier

A team of researchers have discovered a key marker in blood and urine that identifies people who carry the DHDDS genetic mutation that is one of the genetic causes of retinitis pigmentosa. This breakthrough discovery means it will be much easier to test children for the disease which affects almost 1 in 4,000 people in the United States. Results of the research are detailed in the Journal of Lipid Research. Researchers utilized dolichol profiling techniques that are used when analyzing urine samples from liver disease patients to examine urine and blood samples of a family that has three of four of the siblings suffering from retinitis pigmentosa. The urine samples gave a much better profile than the blood samples and the team is applying for a patent for this new diagnostic test for the DHDDS mutation. There currently is no treatment for retinitis pigmentosa which causes severe vision impairment and many times leads to blindness. Researchers are hoping that this new diagnostic technique will lead to possible treatments for the disease in the future.*