Skip to main content
Home » Eye Care Services » Genetic Testing and Eye Diseases

Genetic Testing and Eye Diseases

dna strand

You have probably heard of the concept of genetic testing, and how certain diseases can be passed down genetically. Is this true for eye diseases as well?

There are inheritable eye diseases, Glaucoma being one of them, and some families decide to go through genetic testing. Genetic testing, in essence, is any test or technology that determines if a person is affected by a heritable disease. In the eye world, genetic testing can help improve the doctor's accuracy of diagnoses and prognoses, help reduce the risk of disease recurrence in families since they will be more aware, and can help doctors treat child Learning & Visionamilies at risk in the best way possible. However, genetic testing is not for everybody and can cause stress in certain areas of one's life. We are there to advise you if genetic testing is the right decision for you and your family.

Genetic tests now exist for dozens of inherited eye diseases. When choosing genetic testing, you will also receive genetic counseling as well. Know about Children’s Eye Exams

Presymptomatic Testing

Presymptomatic testing has three advantages. It can allow a doctor to apply preventative therapy before damage can occur, keep a lookout for a sign of disease starting to occur and treating it, and allow a person to make any career and reproductive decisions before a disease manifests itself.

Parallel or Bundled Testing

This test tests for numerous genetic loci, which can lower the cost of the testing. However, there are setbacks to this testing, one being that it is not specific to the individual. The test could be testing genes that are not relevant to their known genetic disease. As well, since this test tests hundreds of thousands of genes, the test may result in a mutation that could cause a number of diseases, cystic fibrosis, breast cancer, and so on. Knowing this information may be very unhelpful, and damaging. Believe it or not, 1 in 25 white individuals is a carrier for cystic fibrosis.

However, when a disease is caused by multiple genes, for example, nonsyndromic retinitis pigmentosa, Usher syndrome, Leber congenital amaurosis, and Bardet Biedl syndrome, parallel testing is the best option.

Clinically Relevant Turnaround Time

Normally, the turnaround time for a genetic test goes hand in hand with how much it costs. If an individual has an eye disease that is slowly progressing, it makes sense to take advantage of the lower costing tests, which have a turnaround time of around 6 months.

If you have any questions about genetic testing, don't hesitate to call our office at 440-252-4400 or make an appointment so we can help you decide what is best for you and your family.