Patients with cataracts and small corneas are particularly prone to the development of glaucoma. We have successfully applied exome sequencing to identify known and novel variants in these disorders. Targeted NGS is also proving to be a useful strategy, and we are optimising this for provision of the first comprehensive diagnostic testing for these disorders in the world. This work has been translated into clinical practice with the tests now available in the clinic setting. This is an example of the research being translated into everyday clinical care.
Recognition of our group’s work in childhood glaucoma led to the invitation to Professors John Grigg and Robyn Jamieson to join the Congenital Glaucoma Research Network (CGRN), and contributed to the World Glaucoma Association 9th consensus statement on the diagnosis and management of paediatric glaucoma. The 9th consensus statement is the largest seller for the World Glaucoma Association.
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