Genetic Test Helps Zero in on Eye Disease

Rapid genetic testing for eye disease is becoming a reality, thanks to a microchip developed at the U-M Kellogg Eye Center which can screen simultaneously for mutations in multiple genes. The screening technique has proven to be reliable and cost-effective.

John Heckenlively and Radha Ayyagari Photo: Martin Vloet

Scientists in the Medical School’s Department of Ophthalmology and Visual Sciences created the first-of-its-kind test on a microchip array to help physicians diagnose patients with the blinding disease known as retinitis pigmentosa. RP is a group of diseases, affecting one in every 3,500 individuals, in which retinal degeneration leads to blindness or severe vision loss.

“For diseases associated with multiple genes, like RP, we now have a new and faster method for identifying the underlying genetic basis,” says Radha Ayyagari, Ph.D., assistant professor of ophthalmology and visual sciences.

It is nearly impossible to identify which form of the disease a patient has through a clinical examination alone, according to John R. Heckenlively, M.D., professor of ophthalmology and visual sciences.

“Identifying the precise genetic mutation responsible for an individual’s disease will allow us to provide a precise diagnosis and more accurate prognosis, and also we will know which patients will be eligible for genetic therapies as they are developed,” Heckenlively says.

Studies to design these chips and provide molecular diagnostic testing to patients are funded by the National Eye Institute and the Foundation Fighting Blindness.

—Betsy Nisbet

For an expanded version of the story:
www.med.umich.edu/opm/newspage/2005/arrp.htm

For patient information on RP:
www.kellogg.umich.edu/patientcare/conditions/pigmentosa.html