Genetic Testing in Glaucoma

Just because you can order genetic testing for a patient doesn’t mean you should. “Genetic testing is rarely indicated in glaucoma,” said Wallace L.M. Alward, MD, at Glaucoma Subspecialty Day.

However, he emphasized that there are circumstances in which testing—and genetic counseling—is essential. If there’s a family history of glaucoma, “families need to know,” Dr. Alward said. “Even with primary open-angle glaucoma, there’s a 22% increase in risk for first-degree relatives.”

Dr. Alward offered 2 compelling reasons for testing from his own practice:

• A male aniridia suspect who was adopted and who now has 3 children of his own. Does the father have primary congenital glaucoma or Axenfeld-Rieger syndrome? “If it’s Axenfeld-Rieger, the children have a 50-50 chance of developing the disease [glaucoma],” Dr. Alward said.
• Members from a large family study of juvenile-onset open-angle glaucoma. “One patient now has 2 children of her own. These children deserve close follow-up.”

The first step is to obtain baseline disc photos of the patient, Dr. Alward said. Beyond that, genetic tests can be ordered singly or in combination. And while they also can be ordered as part of a larger panel, “There’s no reason to order a massive panel,” Dr. Alward advised. He recommended www.genetests.org as a source of additional information. —Jean Shaw

Financial disclosures. Dr. Alward—InnFocus: C.

Disclosure key. C = Consultant/Advisor; E = Employee; L = Speakers bureau; O = Equity owner; P = Patents/Royalty; S = Grant support.