1. Keratoconus Research Innovation at CERA Dr Srujana Sahebjada Research Fellow, Optometrist Ocular Genetics Unit

2. PUBLICATIONS  Evaluating the association between keratoconus and the corneal thickness genes in an independent Australian Population. Sahebjada S et al. Invest Ophthalmol Vis Sci. 2013.  Impact of keratoconus in the better eye and worse eye on vision-related quality of life through the vision specific multi assessment utility index - the Vision and Quality of Life Index. Sahebjada S et al. Invest Ophthalmol Vis Sci..  Association of the Hepatocyte Growth Factor gene with Keratoconus in an Australian Population. Sahebjada S et al. PLoS One. 2014.  Assessment of anterior segment parameters and clinical correlation of corneal curvature in Keratoconic eyes. Sahebjada S et al. Optometry and Vision Science 2014. CONFERENCES  Asia Cornea Society, China.2014 (Presenting in Dec)  Eucornea Conference, Europe. 2013  Association for Research in Vision and Ophthalmology annual Meeting, US. 2012  Royal Australian and New Zealand and College of Ophthalmologist, Australia. 2012  Biomed conference, Australia. 2012  Melbourne Ophthalmic Alumni Meeting, Australia.2011

3. Project Titles  Economic impact of Keratoconus -a patient’s perspective  Genome wide expression profiling of keratoconus & non keratoconus corneas  Early detection of keratoconus using advanced image & genetic techniques in families of keratoconus subjects

4. Economic burden of Keratoconus Background Represents a significant public health concern. Most KC patients incur high out-of-pocket expenses as a result of Direct costs - glasses, contact lenses, contact lens solutions, pharmaceuticals, hospitals, health practitioners & Indirect costs -informal care and support and time taken off from work The results from this study will directly reflect the patient's perspective.

6. Gene expression analysis of keratoconus & non keratoconus corneas Background Provides insight into the early stages of disease. Corneal buttons are typically discarded following corneal transplantation. This work will allow us to identify high risk individuals who are yet to develop Keratoconus. Long-term aim is to stopping its progression to more advanced stages of the disease.

7. Procedures for the recruitment Prior to surgery 1) Specific demographic data and consent will be collected 2) Each individual will undergo an eye examination During surgery 3) Corneal tissue will be collected and stored for further genetic analysis. No additional time required to collect the corneal tissue!

8. Early detection of Keratoconus  Recent advances in imaging techniques allows the early detection of corneal changes.  Corneal thickness represents an important marker for detecting subclinical keratoconus.  Clinical examination of family members may reveal the potential predisposing features/ subclinical keratoconus.  Thus the collection of family members will enable us to assess the underlying risk factors.

9. Methods  Family members will be invited.  Each individual will have a pentacam image as well as standard imaging undertaken.  Images will be analyzed.

10. SIGNIFICANCE OF THE PROJECTS  Estimating the economic burden of keratoconus will be the world's first and largest study.  Greater knowledge of the genetics will help to understand the hereditary influence of the disease.  Advanced imaging techniques can assist in detecting subclinical keratoconus.  Corneal cross linking may therefore become the standard treatment option.  Ultimately this may allow the majority of keratoconus patients to be managed with glasses or contact lenses.

11. Volunteers with Keratoconus and their family members are invited to participate. For more information or for an appointment you can contact: Dr Srujana Sahebjada E-mail: genes.study@gmail.comgenes.study@gmail.com Mobile: 0404 181 677