Ophthalmologists are asked to refer participants that they feel fit the suitability criteria by posting, faxing or e-mailing a completed referral and consent form, or phoning our office. Following this, the participant will be contacted by the Australian and New Zealand Registry of Advanced Glaucoma, and a DNA collection kit will be posted to them along with instructions.
The participant will be asked to return the DNA (usually blood) sample to the registry using a pre-paid package. Analysis of the sample will occur once received, with DNA extraction and gene sequencing conducted in our laboratories at Flinders University under the guidance of Assoc/Professor Jamie Craig. Some samples will be screened for specific genes (eg Myocilin and CYP1B1). The results will then be analysed and the information gained disseminated to the referring ophthalmologist and the participant. Genetic counselling will also be offered.
This service is offered at no cost to the participant. The patient’s current glaucoma treatment regime will not be affected as they will continue to visit their regular ophthalmologist.
It is envisaged that as well as offering a clinical service for participants by screening for known gene mutations (such as Myocilin and CYP1B1), new genes may also be discovered as a result of collecting the DNA specimens.