A team of American researchers has devised a way to identify retinitis pigmentosa using a simple blood or urine test.
Ophthalmologists Rong Wen and Byron Lam, from the Miller School of Medicine at the University of Miami, and biochemist Ziqiang Guan, from Duke University Medical School, discovered a key marker in blood and urine that can identify people who carry genetic mutations in a gene responsible for retinitis pigmentosa. Collecting urine is non-invasive and easy, says Rong Wen.
The first mutation in this gene, named DHDDS, was identified in 2011 by scientists at the Miller School of Medicine. It is our vision that every patient who is affected with an inherited eye disease like RP should have access to a clinician who is knowledgeable about the diseases, as well as to affordable diagnostic testing and counseling, says Lam. This diagnostic test is a powerful tool that will help in developing treatments for RP caused by DHDDS mutations.
The researchers published their findings in the Journal of Lipid Research.
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