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Genetic Testing Sheds Light on Degenerative Eye Disease

The authors observe that genetic testing for eye disease is a relatively new and evolving practice. Says Ayyagari, “Molecular diagnostics does not replace the necessary expertise of the ophthalmologist; rather, it adds a new tool to the ophthalmologist’s diagnostic arsenal.”

The report describes one case in which parents with no family history of retinal degeneration requested genetic testing in hopes of revealing the specific nature of their son’s eye disease. They also wanted to know whether the younger son, who was experiencing more subtle symptoms, had the same disease or a milder vision problem due to a different disease. Testing revealed that both boys had two gene mutations linked to Stargardt’s macular degeneration, a blinding disease that begins in childhood.

Genetic counseling is a crucial part of the genetic testing process, particularly when the patient may face the possibility of blindness, says Ayyagari. The family needs to prepare for all possible test results, understand the implications of test results for the patient and other family members, and be aware of the limitations of genetic testing. If physicians do not have the time or skills to provide this background, Ayyagari urges them to refer their patients to genetic counselors.

The study also reported that a diagnosis could not be confirmed in 133 cases, or half the tests conducted to confirm a diagnosis. “It is very difficult for patients to understand that the test may not be definitive,” says Ayyagari. “Genetic testing may not always yield the firm facts we receive in other kinds of testing, such as blood tests for cholesterol levels.”

A related point of confusion is that an inconclusive result does not necessarily rule out a diagnosis for a given disease. Limitations still exist in technologies for genetic testing, explains Ayyagari. In addition, very slight genetic variations believed to be benign may have either a cumulative effect or
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