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Study: Genetic tests for retinal diseases confirm ophthalmologists' diagnoses half of the time
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A study found that genetic tests for hereditary retinal disease were able to confirm an ophthalmologist's diagnosis 50% of the time, according to a press release from the University of Michigan. Such tests have the potential to differentiate between a variety of retinal diseases that have similar presenting symptoms, the study authors said.
Radha Ayyagari, PhD, and colleagues reviewed results from 350 clinical molecular tests. In each case, the researchers analyzed mutations in eight retinal genes via dideoxy sequencing.
The authors found that of 266 diagnostic tests that were performed, 133 confirmed the ophthalmologist's original diagnosis. Disease-causing mutations were not identified in the other 133 tests, the authors said.
"It is very difficult for patients to understand that the test may not be definitive," Dr. Ayyagari said in the release.
"It is essential that patients are counseled before testing regarding the benefits and limitations of this emerging diagnostic tool," the study authors said in the February issue of Archives of Ophthalmology.