Genetic Tests Help Eye Disease Diagnosis

Genetic testing for eye disease is providing vital information about complex retinal diseases, according to a University of Michigan Kellogg Eye Center study.

Radha Ayyagari, director of Kellogg’s Ophthalmic Molecular Diagnostic Laboratory, and colleagues report on 350 genetic tests conducted since 1999, when the laboratory became one of the first in the nation to receive government approval for ophthalmic testing under the Clinical Laboratory Improvement Amendment.

For each test described in the current study, scientists analyzed one or more of eight genes known to cause diseases of the retina. Ayyagari’s team was able to determine the molecular basis of the disease in half of 266 tests conducted to confirm a diagnosis.

These results are significant because many retinal diseases present similar symptoms, and it is sometimes difficult for even the most skilled specialist to distinguish one from the other.

The findings are published in the Archives of Ophthalmology.