Keratoconus Research Innovation at CERA

Dr Srujana Sahebjada

Research Fellow, Optometrist

Ocular Genetics Unit

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

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

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.

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.

Procedures for the recruitment

Prior to surgery1) Specific demographic data and consent will be collected2) Each individual will undergo an eye examination

During surgery3) Corneal tissue will be collected and stored for further genetic analysis.

No additional time required to collect the corneal tissue!

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.

Methods

Family members will be invited.

Each individual will have a pentacam image as well as standard imaging undertaken.

Images will be analyzed.

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.

Volunteers with Keratoconus and their family members are invited to participate.

For more information or for an appointment you can contact:

Dr Srujana SahebjadaE-mail: genes.study@gmail.com

Mobile: 0404 181 677

Thank you