Researchers from the University of Michigan Kellogg Eye Center had developed a rapid genetical testing to diagnose eye diseases in people.
Scientists have created a first-of-its-kind test on a microchip array that will help physicians hone their diagnoses for patients with the blinding disease known as retinitis pigmentosa (RP). The screening technique has proven to be reliable and cost-effective.
In the new issue of Investigative Ophthalmology & Visual Science (IOVS), scientists had reported on the arRP-I sequencing array, the first technology to screen simultaneously for mutations in multiple genes on a single platform.
A patient with the autosomal recessive form of the disease (arRP) has inherited one gene from each parent, neither of whom is affected by RP. It is nearly impossible to identify which form of the disease a patient has through a clinical examination alone.
Some clues to treatments are beginning to emerge in animal models, and scientists expect future therapies to be very specific to the type of RP.
The new study involved 70 individuals with a clinical diagnosis of arRP. Thirty-five had not been previously screened, and 35 others with known genetic mutations were screened to validate the results.
The arRP-I chip contained sequences, or genetic codes, of 11 genes that carry approximately 180 mutations associated with early-onset retinal degenerations. To date more than 30 genes have been identified for various forms of RP. Researchers note that while the size of the chip currently limit the ability to array all known RP genes, larger platforms are likely to be available soon.