Genetic testing may be helpful in diagnosing glaucoma | Ophthalmology

 

“[Glaucoma genes] are often times inherited autosomal dominant or autosomal recessive traits. In these types of glaucomas, mutations and genes cause disease. It is not a risk factor; it is actually something that is causing the disease,” Wiggs said.

 

“You can test and tell that someone’s risk is slightly greater than someone else’s, but as of yet, these are not approved for genetic testing. Counseling can be more complicated because they do not cause disease individually − only an aggregate can influence disease susceptibility,” Wiggs said.

 

“We purify the DNA from the tissue. In our lab, we currently use a simultaneous, next-generation sequencing panel and then we analyze the gene’s sequence for mutations,” Wiggs said.

 

Clinical exam alone cannot distinguish between dominant and recessive disorders, she said. Genetic counseling and risk assessment is very different for a patient with mutations inherited dominantly and a patient with mutations inherited recessively.

 

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