1. The latest from the Australian Study of Keratoconus Dr Srujana Sahebjada Postdoctoral Research Fellow/Optometrist Ocular Genetics Unit

2. Side view of Normal cornea (top) and keratoconus (bottom) showing anterior protrusion of the cornea.  30% of corneal grafts in Australia  At least 10,000 patients with Keratoconus(KC) in Victoria alone  Affects the prime working and child-rearing years of life Keratoconus

3. Fleischer’s ring Vogt’s striae Munson’s Sign Corneal Hydrops Corneal Thinning Signs & Symptoms

4. Aetiology Eye rubbing Allergy Connective tissue dysfunction Contact lens wear Familial disposition Genetic influence  Twin studies  Familial aggregation studies  Genetic analyses

5. ASK is a well characterized study on a large population of Keratoconus subjects aimed to better understand the risk factors, clinical characteristics and genetic aspects of KC. Australian Study of Keratoconus

6.  Stage 1- Obtaining the patient consent.  Stage 2- Completing the questionnaires. https://redcap.cera.unimelb.edu.au/redcap/  Stage 3- Eye examination.  Stage 4- Blood sample or saliva sample collection for genetic analysis. Patient recruitment

7. Gender Family History 43 (13.0%) –Familial 287 (87%)-Sporadic 330 Demographics 195 (59.1%) –Males 135 (40.9%)-Females

8. Number of Keratoconus individuals Age distribution Age Group (Years) Mean 35.5 + 14.8 years Range 11-78 years Distribution of ethnicity

9. KC Research innovations at CERA 1) Economic impact of Keratoconus - a patient’s perspective 2) Genome wide expression profiling of keratoconus & non keratoconus corneas 3) Early detection of keratoconus using advanced image & genetic techniques in families of keratoconus subjects 4) Keratoconus Cross Linking Registry (Fight Corneal Blindness)

10. PUBLICATIONS  Assessment of Macular Parameter Changes in Patients with Keratoconus Using Optical Coherence Tomography. Sahebjada S et al. J Ophthalmol. 2015  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.2014  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.  Evaluating the association between keratoconus and the corneal thickness genes in an independent Australian Population. Sahebjada S et al. Invest Ophthalmol Vis Sci. 2013. CONFERENCES  UoM Dept of Surgery Research Day, Australia. 2015  Asia Cornea Society, Taiwan.2014  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

11. Economic burden of Keratoconus 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.

12. Gene expression analysis of keratoconus & non keratoconus corneas 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.

13. Early detection of Keratoconus  Recent advances in imaging techniques allows the early detection of corneal changes.  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.

14. Keratoconus Cross Linking Registry (Fight Corneal Blindness) To record the use of CXL treatments and to assess the results and safety of different treatment regimens Minimum demographics such as age, gender, post code Corneal measurements before and after treatment CXL treatment tracked against impact on vision over time

15. SIGNIFICANCE OF THE PROJECTS  Estimating the economic burden of keratoconus will be the world's first and largest study.  Advanced imaging techniques can assist in detecting subclinical keratoconus.  Cross linking registry will help develop guidelines for eye doctors to provide the best management for their patients with keratoconus.  Ultimately this may allow the majority of keratoconus patients to be managed with glasses or contact lenses.

16. 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: 040 4181 677