Scientists develop non-invasive technique to determine gene carriers for retinitis pigmentosa
Published on May 9, 2014 at 5:11 AM
Scientists have developed a non-invasive technique to determine if individuals carry a gene for an inherited eye disease known as retinitis pigmentosa. The research is being presented at the 2014 Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) this week in Orlando, Fla.
The technique involves collecting a patient's urine and measuring the ratio between specific compounds. The non-invasive process makes subsequent testing clinic-friendly, especially for children being screened.
Retinitis pigmentosa is a group of inherited conditions where patients progressively lose the ability to see. Development of the disease can include night blindness and tunnel vision, eventually leading to the loss of sight.
Association for Research in Vision and Ophthalmology