Flinders Medical Centre Foundation
Flinders Medical Centre Foundation


An Australasian First For Glaucoma Screening

A Clearer Vision Of Pseudoexfoliation Syndrome

An Australasian First For Glaucoma Screening
First Published: Investigator - July 2009

Flinders Medical Centre (FMC) researchers have established Australasia’s largest registry of advanced glaucoma patients to find ways to identify those at high risk of developing the degenerative eye disease.

Glaucoma, a disease which causes gradual blindness because of high eye pressures, affects more than 300,000 Australians, but as many as half do not know they have it until irreversible vision loss has occurred.

About three percent of glaucoma cases are explained by inherited errors in a particular gene called myocilin. These cases characteristically have very high eye pressures which develop at a younger age than non-genetic glaucoma, causing challenges for the early identification of the disease.

Ophthalmologist Associate Professor Jamie Craig and his team of researchers at FMC have established the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) in the hope of developing genetic screening tools for people who are most at risk of glaucoma blindness, so that they can be diagnosed and treated before they start losing vision.

The team will also study the DNA of advanced glaucoma patients to identify new genes linked to glaucoma and to gain a better understanding of other factors which contribute to the disease.

ANZRAG was established at Flinders in 2007 and the registry currently has 642 samples from people with advanced glaucoma from all over Australasia.

“We try to recruit as broadly as possible. Ophthalmologists in other states and New Zealand send details of patients with very severe glaucoma, and we then work with them to obtain a blood sample,” Associate Professor Craig said.

Samples are screened to see how many have the known errors in the gene myocilin which can cause severe glaucoma. If patients are found to have the genetic mutation, information and gene screening is then offered to their families.

Family members found to be carrying the myocilin changes can then be monitored and put on preventative treatments before vision loss occurs.

ANZRAG is the only organisation in Australia offering this clinical gene testing for patients with advanced glaucoma.

To obtain more information please speak with your Ophthalmologist or telephone ANZRAG on 08 8404 2035.

A Clearer Vision Of Pseudoexfoliation Syndrome
First Published: Investigator - January 2009

Flinders researchers have set pseudoexfoliation syndrome in their sights in the hope of better understanding this eye condition which is a major risk factor for developing glaucoma.

Pseudoexfoliation syndrome is an ageing disease characterised by abnormal deposits forming on the lens in the eye. It can develop into glaucoma if the deposits block the eye’s drainage pathways, leading to loss of vision or blindness.

Ophthalmologist Assoc Prof Jamie Craig, and researchers Drs Kathryn Burdon and Shiwani Sharma are using cutting edge techniques to identify the materials deposited on the lens and determine why they form.

By comparing samples taken during cataract surgery, Dr Sharma is working with the Flinders Proteomics Facility to identify proteins present in the pseudoexfoliation eye deposits which are not present in patients who do not have the syndrome.

“We have identified new proteins in pseudoexfoliation deposits which were previously not known to be present. These proteins may explain why the material is depositing,” Dr Sharma said.

The researchers are collaborating with the School of Chemistry to use an atomic-force microscope to see how these new proteins arrange themselves on the eye lens in the hope of better understanding how they form.

They are also using genomics to add further pieces to the puzzle.

It is known that a variant of the LOXL 1 gene plays a role in the formation of the protein deposits on the lens. However, not everyone who has this variant will develop pseudoexfoliation syndrome.

“We think there are a number of other genes not yet identified that contribute to the disease,” Assoc Professor Jamie Craig said.

“We also have some ideas about other factors such as ultraviolet light exposure that may increase the risk of this condition in people with the genetic predisposition.”

The researchers are conducting a genome wide scan of 250 patients who have pseudoexfoliation syndrome in the hope of identifying gene variations which are over or less represented in patients with the disease.

“The information found by these techniques will all come together and complement each other. It is incredible how far technology has come. Three years ago we would not have had a hope of understanding this disease at all.” Assoc Prof Craig said.

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