Non-Invasive Technique Can Identify Genetic Carriers of Eye Disease

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Citations 2014 Annual Meeting of the Association for Research in Vision and Ophthalmology

Newswise — Orlando, Fla. —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.

Abstract Title: Aberrant Dolichol Chain Length Distribution as Biomarkers for Retinitis Pigmentosa Associated with DHDDS Genotypes
Presentation Start/End Time: Wednesday, May 7, 4pm – 4:15pm
Location: S 230A-D
Session Number: 463

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The Association for Research in Vision and Ophthalmology (ARVO) is the largest eye and vision research organization in the world. Members include some 12,000 eye and vision researchers from over 70 countries. ARVO encourages and assists research, training, publication and knowledge-sharing in vision and ophthalmology.

All abstracts accepted for presentation at the ARVO Annual Meeting represent previously unpublished data and conclusions. This research may be proprietary or may have been submitted for journal publication. Embargo policy: Journalists must seek approval from the presenter(s) before reporting data from paper or poster presentations. Press releases or stories on information presented at the ARVO Annual Meeting may not be released or published until the conclusion of the presentation.


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