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

A ‘Good Read’ – Now I can see my own face again

‘Making a real difference’

More ‘Gene Therapy’ good news courtesy of the BBC…

Members-Only areas coming SOON

Access to certain areas of the UK-EGG website are being made ‘Members-Only’, this includes recordings of Webinars and Meetings

Accounts for UK-EGG members have already been created. Over the next week, emails will be going out to all members, requesting that they reset their UK-EGG website password. When you receive this email, unless you have already used your account and know your password, either accept and note your password, or change it. Once this is done then please return to UK-EGG.com and login to your account. I suggest that the next thing that you do is explore the https://ukegg.com/webinar-recordings/ page and catch up on the excellent Webinars that have been held over the past months.

Geoff Cross – UK-EGG web site

Novartis UK Understanding IRDs Webinar Series: IRDs overview

Thursday 29th April, 19:00 – 20:00

A ‘Good Read’ – Tiny Happy People

Parenting with a visual impairment:

‘It’s all about building a connection, enabling them to grow and experiment’. Robin is visually impaired and dad to two sons, Tadhg, 5 and Arlo, 2 who are sighted.

Prof Mariya Moosajee @MariyaMoosajeeReally encouraging article on being a parent with sight loss. This couple had genetic counselling @Moorfields for family planning advice. As with all new parents you’re learning as you go & will find a way to adapt to give your child the most Red heart & care.

UK-EGG Annual Meeting on Tuesday, 21st September, 2021

2021 Annual Meeting – Venue and Date for your Diary

Dear Colleagues, 

Our annual conference was due to be held on Tuesday, 24th November, 2020, but due to concerns about ongoing social distancing and restrictions on large group meetings, we have taken the difficult decision to  postpone our face to face meeting to Tuesday, 21st September, 2021. This will be held in the main auditorium of The Francis Crick Institute, London, with access to their gallery space, so there will be plenty of room to spread out and/or invite more guests.

UK-EGG Executive Committee:  Mariya Moosajee, Denize Atan and Gabrielle Wheway

UK-EGG Webinar 3 – Countdown

Webinar 3 Countdown








UK-EGG Webinar 3 – Agenda

5:30pm:   Introduction

Rapid fire poster session

5:35pm:   3 minute posters followed by an open panel questions to speakers

  • An illustrative case of bilateral ectopia lentis due to mutations of the ADAMTSL4 gene– Aditi Das, Great Ormond Street Hospital, London
  • High myopia referrals to the Genetic Eye Clinic: Are we being short-sighted?- Melody Redman, Yorkshire Regional Genetics Service, Leeds.
  • Exome Sequencing of mendelian genes in syndromic and non syndromic patients with Microphthalmia Anophthalmia Coloboma identifies potentially causal mutations in 45%- Irina Balikova, University Hospital Gasthisberg, Belgium
  • EPHA2 segregates with bilateral microphthalmia and congenital cataracts in two unrelated families- Philippa Harding, UCL Institute of Ophthalmology, London
  • A systematic review of genetic mutations and clinical features associated with Late-Onset Retinal Degeneration- Randa Li, University of Edinburgh, Edinburgh.
  • Ocular features associated with DYRK1A variants- Cécile Méjécase, UCL Institute of Ophthalmology, London
  • Translational readthrough of ciliopathy genes BBS2 and ALMS1 using patient fibroblasts- Jonathon Eintracht, UCL Institute of Ophthalmology, London
  • Genome-wide study of retinal vascular complexity identifies 8 novel loci and unravels shared genetic with cardiovascular events– Ana Villaplana-Velasco, University of Edinburgh, Edinburgh.
  • Metabolomic analysis of choroideremia patients plasma reveals systemic lipid metabolism dysfunction and oxidative stress– Dulce Lima Cunha, UCL Institute of Ophthalmology, London

Oral presentations

6:10pm:   A Qualitative study exploring the support requirements of families with inherited retinal dystrophies and how they obtain information- Manara Gul, University of Cardiff, Cardiff

6:22pm:   Retrospective natural history study of a UK cohort of cerebrotendinous xanthomatosis– Suzannah Bell- Moorfields Eye Hospital, London

6:34pm:    Characterisation of foveal development and cone photoreceptor specialisation in SLC38A8 mutations- Helen Kuht, The University of Leicester, Leicester

6:46pm:   The role of BMP3 in the development of myopia- Amy Findlay, University of Edinburgh, Edinburgh.

UK-EGG Webinar 3 – Speakers

A Qualitative study exploring the support requirements of families with inherited retinal dystrophies and how they obtain information.

Manara Gul

Genetic Counsellor
Supervisor: Roberta Rizzo
University of Cardiff

Retrospective natural history study of a UK cohort of cerebrotendinous xanthomatosis

Suzannah Bell

Clinical research fellow/ ST1 Ophthalmology trainee
Mariya Moosajee Group
Moorfields Eye Hospital NHS Foundation Trust, London, UK

Characterisation of foveal development and cone photoreceptor specialisation in SLC38A8 mutations

Helen Kuht

Research Orthoptist

Supervisor: Mervyn Thomas

The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester

The role of BMP3 in the development of myopia

Amy Findlay

Post-doctoral Research Scientist

Veronique Vitart Group

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh

Helen graduated from the University of Sheffield in 2016 with first-class honours in Orthoptics and was subsequently appointed as a research orthoptist at the University of Leicester. Helen is currently undertaking a part-time PhD, providing insights into foveal developmental disorders using deep phenotyping techniques. She have a special interest in genotype-phenotype relationships associated with developmental disorders of the eye, and the application of artificial intelligence in paediatric ophthalmology.

Amy completed her PhD in the lab of Martin Collinson, University of Aberdeen, studying the role of planar cell polarity genes in the maintenance of corneal transparency. She then moved to MRC Human Genetics Unit, University of Edinburgh, to work in the labs of Ian Jackson and then Veronique Vitart. Here she has developed her interest and skills in using disease models to better understand the mechanisms of sight loss.  She hopes to continue this work in future and believes that by investigating the molecular basis of eye disease we can better develop therapeutics in the future.

A ‘Good Watch’ – DNA Family Secrets

DNA Family Secrets

Stacey Dooley helps answer life-changing questions through the power of DNA. A set of adopted triplets want to discover their ethnicity, and gene therapy could stop Leo going blind:

Register NOW for UK-EGG Webinar 3

Register now for UK-EGG Webinar 3: Early Career Researchers – Pushing Ocular Genetic Frontiers

All UK-EGG members are warmly invited to join the third in our series of webinars for the UK Eye Genetics community, aimed at enabling virtual contact between members at a time of great disruption as a result of COVID-19. Our third webinar will highlight the work of our early career members from all areas of UK Eye Genetics and will be held on Thursday, 15th April from 5.30pm to 7.00pm.

There will be a fantastic selection of posters and short talks selected from abstracts submitted by our early career members from different areas of UK Eye Genetics, including:

  • Clinical Genetics
  • Clinical Research
  • Population Genetics
  • Basic Research/Disease Mechanisms
  • Genetic Counselling
Please feel free to share this information widely amongst your colleagues, and encourage them to join our UK-EGG community in order to attend. Membership attracts a one-off joining fee of £25.00, with no further payment for continued membership. In addition to free registration for our online events, members of UK-EGG are kept updated with genetic ophthalmology research currently on-going in the UK, can take part in secure genetic case discussion, and can attend our yearly Conference for a reduced fee. https://ukegg.com/membership-store/
If you have any questions, please do not hesitate to contact Chloe Stanton or Neeru Vallabh, Co-Directors of Seminars for UK-EGG.

Countdown to Webinar 3








UK Genetic Specialist Clinics

We have added a list of Genetic Specialist Clinics around the country to our Links Page

Late Onset Retinal Degeneration (L-ORD)

L-ORD Information Request

Ophthalmologists and researchers in Edinburgh led by Professor Bal Dhillon have an interest in Late Onset Retinal Degeneration (L-ORD), a rare autosomal dominant disease caused by mutations in C1QTNF5. We would like to build a better picture of the prevalence of L-ORD across the UK and to identify clinical colleagues who are involved in the diagnosis, management and care of L-ORD patients. We would be grateful if you would please contact Prof. Bal Dhillon or Chloe Stanton with details of the number of patients and the location in which you have worked with them.

More details about our work on L-ORD at the University of Edinburgh can be found via link from button below:


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.


16 years of support for ophthalmic clinicians and clinical geneticists