Flinders Medical Centre Foundation
Flinders Medical Centre Foundation

Pseudoexfoliation Syndrome

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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