Dr Chris Hodge PhD
Clinical Research Coordinator
Keratoconus is an enigmatic disease. Its incidence has previously been stated as little as 1/2000. However, the broader availability of corneal topography evaluation within both ophthalmology and optometry practices has seen diagnoses increase significantly.1 Reports now suggest prevalence rates as high as 1/375, highlighting improved detection of corneal signs.2
Keratoconus generally follows a standard clinical path of increasing corneal irregularity from onset through to eventual stability across the third to fourth decades of life. However, our understanding of genetic and environmental risk factors, disease progression and treatment response remains limited.3 Consequently, ongoing research continues to play an integral role in increasing our knowledge and further improving available treatment options.4
The incidence of keratoconus in the Asia-Pacific region remains amongst the highest worldwide.5
Therefore, it is not surprising that Australia represents a veritable hotspot for both genetic and clinical keratoconus research.
This includes a number of Vision Eye Institute partners, who are involved in several exciting research initiatives.
Between 5–25% of cases have a confirmed family history, although this is likely to increase with extended investigation.3,5 Previously limited to small, disparate samples and inefficient techniques, genetic testing of keratoconus populations rarely provided replication of results. Now, the availability of genome-wide association studies (GWAS) has made it possible to identify a larger range of possible variants and crossmatch these outcomes with other populations.6
Dr Abi Tenen (VIC) was recently at the forefront of the largest worldwide GWAS for keratoconus. Forty significant variants at 8 loci were found across 522 Australian patients with keratoconus. Importantly, these results were replicated in three further cohorts, suggesting that we may be approaching the consensus required to develop more appropriate diagnostic and therapeutic options.7
Understanding the potential rate of progression for an at-risk patient will provide significant clinical benefits and determine patient suitability for treatments such as collagen cross-linking. One of several PhD students supervised by Professor Gerard Sutton (NSW) is currently investigating the development of an artificial intelligence program to determine the risk and rate of progression in keratoconus patients. Working alongside the Departments of Mathematics and Visual Science at the University of New South Wales, this represents a compelling project.
Although in its early stages, the team has already garnered interest from industry for eventually incorporating the program into existing diagnostic technology. The program may have additional applications in determining suitability for laser refractive surgery and contact lens fitting in difficult cases.
Ideally, laboratory and theoretical applications can be supported by clinical investigations. In the case of progressive diseases such as keratoconus, longitudinal analysis is essential. Given the availability of the internet and various electronic resources, corroboration between leading research institutions represents not only an economical decision but also a sound clinical choice. The Keratoconus International Consortium, currently directed by the Centre for Eye Research Australia in Melbourne, represents an impressive collection of the region’s most significant corneal researchers – over 40 academic and clinical institutions are currently involved.
Data collection is currently underway with provision to support existing genomic and surgical investigations. Vision Eye Institute corneal specialists, including A/Prof Colin Chan (NSW), Dr Athena Roufas (NSW), Prof Gerard Sutton, Dr Abi Tenen and Prof Rasik Vajpayee (VIC), have been involved since the inception of this exciting innovation that will drive local and international research over the coming decade.
Appropriate clinical decisions will continue to be led by evidence-based medical research. Vision Eye Institute is committed to providing the best outcomes for our patients by remaining at the forefront of technology and research.
Importantly, our continued research interests allow us to collaborate closely with optometric partners. This is in addition to our ongoing relationships in the shared management of mutual patients. If you have an interest in learning more or contributing to the growing clinical research, please contact one of our corneal specialists above for further information.
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