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Family history key in glaucoma diagnosis and genetic research
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PRAGUE — Family history is a key factor in identifying patients at risk of glaucoma and is the basis for research on glaucoma-related genes.
At the European Glaucoma Society Congress, Wallace Alward, MD, said that “screening the general population for glaucoma is relatively low yield, while screening first-degree relatives would be a much better use of resources.”
Wallace Alward
A large body of evidence shows that family history is a major risk factor for glaucoma. In the Rotterdam Study, a 10.4% glaucoma prevalence was found in first-degree relatives of primary open-angle glaucoma patients, and a study performed at the Aravind Eye Hospital found that 36% of relatives of patients with angle closure were at risk.
“When diagnosing patients with glaucoma, ask about the family history and also tell them they have to have their first-degree relatives tested, particularly families where patients have pupillary block angle closure,” Alward said.
Alward was personally involved in the discovery of four genes. One of them, myocilin, was found to be the cause of almost all cases of autosomal dominant juvenile glaucoma and of 5% of primary open-angle glaucoma cases. New hopes for patients with myocilin gene mutations come from animal studies showing that a chaperone drug, phenylbutyrate, is effective in lowering IOP and rescuing ganglion cell loss in mouse models of myocilin-related glaucoma.
Genetic knowledge can be used to help pre-symptomatic diagnosis and to develop targeted medical therapies based on an understanding of the pathophysiology.
“We can diagnose relatives before they manifest signs of glaucoma, and hopefully we will be able to treat patients by fixing what’s broken rather than just slowing the pressure,” Alward said. – by Michela Cimberle
Reference:
Alward W. Family history in diagnosis. Presented at: European Glaucoma Society Congress; June 19-22, 2016; Prague.
Disclosure: Alward reports no relevant financial disclosures.