We’re shining the spotlight on our newly-funded fellow, Dr Nicky Cronbach, whose research will help families with primary congenital glaucoma better understand the cause of their condition.

In the spirit of World Glaucoma Week (12-18 March 2023), we’re delighted to announce that we have recently awarded Dr Nicky Cronbach, ophthalmology specialist trainee currently working at Oxford University Hospitals NHS Foundation Trust, with a Research Training Fellowship.

During her fellowship, Nicky will be focusing on uncovering novel genes that cause primary congenital glaucoma (PCG).

What is the background of Nicky’s research?

Primary congenital glaucoma (PCG) is a severe form of glaucoma that develops in early childhood and can lead to blindness early in life.

We know that PCG is caused by changes in our genetic code, known as mutations. However, these changes are complex and not yet entirely understood.

Only a small number of these glaucoma mutations (around 10) can be used to diagnose someone with PCG if they are offered genetic screening, meaning that the majority of people do not know the underlying cause of their condition. 

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Over three quarters

of people with primary congenital glaucoma do not receive a genetic diagnosis after genetic screening

Nicky will look to identify novel PCG mutations by analysing data from the 100,000 Genomes Project, and working with families with PCG from Moorfields Eye Hospital who have yet to receive a genetic diagnosis for their PCG.

Why is this research important?

This project has the potential to help more families understand the cause of their glaucoma and enable them to have access to the genetic counselling and family planning options that they need.

Improving our wider understanding of how PCG develops according to a person’s genes will also lay the foundations to develop personalised treatments that can help prevent or slow down sight loss.

I am so excited and grateful to Moorfields Eye Charity to be given this opportunity to pursue my PhD, with the support of Professor Mariya Moosajee and Professor Sir Peng Khaw, which will enable me to uncover more about the genetics of primary congenital glaucoma and fulfil a long-awaited hope for those families affected by this devastating condition.

Dr Nicky Cronbach