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Aussie study targets at-risk relatives of glaucoma patients

Preliminary results of a study targeting the most at-risk relatives of glaucoma patients suggest approximately 38% have the disease or have suspicious signs and require close monitoring.

Glaucoma Australia (GA) estimates that 2,093 first-degree relatives of glaucoma patients have so far received personalised information about their risk of the hereditary condition.

To date, results of eye health checks from 307 of those first-degree relatives contacted by the study have found 185 with no glaucoma, 51 glaucoma suspects, 11 cases of ocular hypertension without glaucoma and 54 with glaucoma.

The preliminary results are part of the Targeting at Risk Relatives of Glaucoma patients for Early Diagnosis and Treatment (TARRGET) study, an ongoing investigation that aims to implement and evaluate an educational program directed at family members of people with advanced glaucoma, and to encourage regular eye health checks.

Funded by the National Health and Medical Research Council, the study is a partnership project between Glaucoma Australia, Flinders University, the University of Western Australia/Lions Eye Institute, the University of Tasmania and Sydney Eye Hospital and WA Country Health Service (Department of Health WA). It involves principal investigator Professor David Mackey, Associate Professor Alex Hewitt, Associate Professor Ivan Goldberg, Associate Professor John Landers and Professor Jamie Craig.

“With a focus on early detection, the program is novel in providing personalised risk information to the family member to take with them to an eye health practitioner for a glaucoma screening appointment,” GA stated.

According to an update report on the GA website, all at-risk relatives who have received personalised information about glaucoma have an immediate relative with advanced glaucoma taking part in the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG), based at Flinders University, Adelaide.

The TARRGET study contacted 1,919 advanced glaucoma cases in the ANZRAG, requesting contact details for first-degree relatives. As a result, they received the names and contacts details for 1,922 first-degree relatives, an average of three per advanced case, according to TARRGET’s interim report.

Details for an additional 311 first-degree relatives have been provided directly to the ANZRAG, resulting in a total of 2,233 first-degree relatives with contact details.

GA has recently provided additional funding to broaden the study to include non-advanced cases of glaucoma and to recruit family members into the ANZRAG so that their genetic risk can be assessed with a blood or saliva sample.

“The TARRGET study will also investigate the possible role of Polygenic Risk Scores (PRS) in determining care and treatment of patients with a mutation in the Myocilin gene,” GA said.

“To assist in our investigations, we will recruit 1,000 controls without glaucoma and assess their PRS.”

The TARRGET study is continuing to contact all new, suitable advanced cases in the ANZRAG and to recruit their first-degree relatives.