The UK Eye Genetics Group was set up in 2002 for ophthalmic clinicians and clinical geneticists with a specialist interest and expertise in ophthalmic genetics, to keep up to date in the field of clinical ophthalmic genetics which is a rapidly evolving specialty.

Welcome to the UK-EGG Website

The UK Eye Genetics Group (UK-EGG) was set up in December 2002 for ophthalmic clinicians and clinical geneticists with a specialist interest and expertise in ophthalmic genetics, to keep up to date in the field of clinical ophthalmic genetics which is a rapidly evolving specialty. The aims of the group are to disseminate the following information:

  • NHS initiatives in ophthalmic genetics and relevant funding
  • Centers offering molecular genetic analysis
  • Update of current research in ophthalmic genetics
  • Provide a forum for interaction between clinicians and scientists
  • Share research in applied fields
  • Open discussion group

Update on Genomic Services from NHS England summarised by Dr Penny Clouston, Clinical Scientist Representative for UK-EGG

Image Credit:  Glasgow Science Centre


Effective Friday 27th March 2020


Dear Colleagues,

In response to the COVID-19 pandemic, NHS England has issued guidelines to genomic laboratories on the prioritisation of work to ensure the continued delivery of services for rare disease and cancer patients with urgent clinical need and to release laboratory capacity to support COVID-19 testing.

Until further notice, genomic diagnostic services will be directed to the following groups of patients:

  • Pregnant women undergoing prenatal diagnosis
  • Patients needing urgent advice on carrier testing relating to pregnancy (e.g. cystic fibrosis, thalassaemia)
  • Those with abnormal fetal scans; critically ill neonates and children requiring assessment and those for whom the rapid PICU/NICU Whole Exome Sequencing (WES) is appropriate
  • New-born screening programmes (e.g. cystic fibrosis, MCADD)
  • Conditions where rapid genetic testing may alter clinical treatment or decision making (e.g. BRCA testing to inform chemotherapy options)

Laboratories will continue to process and test all samples received for urgent testing.

Please do not send non-urgent samples until further notice. Any non-urgent samples received will be processed (DNA/RNA extraction or cell culture) and stored.

We would like to thank you for your patience and continued support during this time.

2020 Annual Meeting – Venue and Date for your Diary

Francis Crick Institute

2020 Annual Meeting – Venue and Date for your Diary

Date and venue has been finalised for the UK-EGG 2020 Meeting – Tuesday, 24th November, 2020 at Francis Crick Institute, London


UK-EGG Membership now available ONLINE

UK-EGG Membership

Becoming a member of UK-EGG ensures you will be kept updated with genetic ophthalmology research currently on-going in the UK.

Membership attracts a one-off joining fee of £25.00, with no further payment for continued membership. Being a member of UK-EGG also means you can attend our yearly Conference for a reduced fee.

Membership can now be purchased online via this LINK

2019 Glasgow UK-EGG Annual Meeting Report

The 2019 UK-EGG annual meeting was held in Glasgow on 8th November 2019. 57 people attended and we received overwhelmingly positive feedback about the overall content of the sessions and the overall organisation of the meeting (more than 76% of you thought these were “excellent”). Many of you commented on the interesting variety of talks, and the high quality of presentations across the board. We were also pleased to hear that you enjoyed the friendly atmosphere of the meeting, and thought that the venue and catering were excellent.

We improved poster presentations on last year (35% of you thought these were just “adequate” or “good”, compared to 61% last year) but we will continue to strive to improve this for next year. In order to display more posters and have more free papers we need more abstract submissions so we would urge you to send abstracts and unusual or unsolved clinical cases in good time. Congratulations to our two winners of the prizes for the best free paper (Siying Lin) and poster (Chloe Stanton) – see photos below. Look out for details of the posters and free papers on the education webpage in the coming weeks.

In response to feedback we will improve the online registration process next year, including advertising more widely and providing clearer directions to the venue. We will also strive to reduce plastic waste, and provide re-usable cups next year. Finally, we will introduce timers for speakers and better microphones for speakers and audience next year.

Our 2019 Keynote speaker, Professor Veronica van Heyningen gave an excellent talk on ‘Disease to genes and biology: PAX6 and progress’ highlighting the significant improvements in both knowledge and genetic techniques over the last 30 years. The patient perspective session was particularly well-received this year, with Andrew Pettigrew entertaining us with a selection of his poems, as well as sharing with us his experience of living with a visual impairment. Our aim will be to include a patient perspective in the meeting programme where possible. It serves as a great reminder of why we have chosen to work in this area of ophthalmology.

Building on the success of last year, a specific session was set aside for genetic counsellors and nurses in genetic ophthalmology, in addition to an informal lunchtime meeting for this group of professionals. Presentations were recorded with permission from the speakers and these will be available to members only at Check your email for the password. Should you wish to propose a future Keynote speaker, or have any suggestion for the 2020 meeting, please let one of the committee members know.

We welcomed new members to the Executive: Denize Atan and Mariya Moosajee as joint Chairs of UKEGG, and Gabrielle Wheway as Secretary and thanked the departing members for all their hard work over the years: Amanda Churchill (Chair), Stuart Ingram (Secretary) and Daniela Pilz (Meeting Organiser). Georgina Hall will be stepping down as Treasurer in February 2020 and replaced by Carmel Toomes.

UK-EGG would like to say a huge thank you to Daniela and everyone at Queen Elizabeth University Hospital Glasgow for such a fantastic job organising and hosting the meeting, and to Geoff Cross for providing AV services. And of course thank you to our members and attendees!

We look forward to seeing you in London on Tuesday, November 24th, 2020!

Amanda Churchill and Gabrielle Wheway


Calling all Nurses

Calling all Nurses – ‘Nursing Roles in Ophthalmic Genetic Services’ Study

I am currently recruiting for my Master’s project so if you are a Registered Nurse of any grade – or a colleague of – in an Ophthalmic or Clinical Genetics Service that cares for patients with genetic/inherited eye disease I would be pleased to hear from you!

This is a short qualitative study looking at the variety of what nurses currently do in the developing world of genetic healthcare & roles, in particular in ophthalmology. Participation would involve a short questionnaire and one informal conversation-interview in person or by Skype/Facetime. GC’s welcome if you are also NMC registered and feel your role includes nursing elements. Please email me for more info…   Thank you.!

UK Eye Genetic Group Committee – New Member

We would like to introduce our membership to the newest member of the UK-EGG Committee, 

Denize Atan. Denize is an Honorary Consultant Ophthalmologist specialising in Paediatric and Adult Neuro-Ophthalmology at Bristol Eye Hospital and a Senior Lecturer at the University of Bristol.


16 years of support for ophthalmic clinicians and clinical geneticists