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

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:

UK-EGG Webinar 3 – Call for Abstract Submissions

UK-EGG Webinar 3: UK Eye Genetics – Early Career Researchers

UK-EGG is pleased to announce that our 3rd webinar will be focussed on highlighting the work of early career members from all areas of UK Eye Genetics. If you are a student, post-doc or trainee researcher, clinician, clinical scientist or genetic counsellor and have an interesting story that you would like to present, please submit an abstract for a virtual poster or short talk.

This is an excellent opportunity for you to discuss your work with others in the field in a friendly and informal environment and could lead to initiating or furthering collaborations in the UK-EGG community.

Please return your completed abstract submission form to Chloe Stanton ( or Neeru Vallabh ( by 22nd March 2021. Presenters must be members of UK-EGG and must register to attend the webinar upon notification of abstract acceptance. This event (and subsequent webinars) will be free to join for UK-EGG members and registration details will be released soon.

Please feel free to share this information widely amongst your colleagues and encourage them to join our UK-EGG community in order to present their work or to support our trainees by attending. 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.

Future Webinars – Save the Date!
Webinar 4: Gene Therapy in UK Eye Genetics 5.30 – 7 PM Tuesday 6th July 2021

If you have any questions, please do not hesitate to contact Chloe Stanton ( or Neeru Vallabh (, Co-Directors of Seminars for UK-EGG.

The webinar is FREE to all members of UK-EGG.

Please Note: to become a member of UK-EGG there is a lifetime membership fee for £25

Countdown to Webinar 3








UPCOMING WEBINAR – Tuesday, February 23rd
Refsum Disease from an Ophthalmology Perspective

Dr Bart Leroy will present the Ophthalmology side of Refsum Disease and the benefits of early diagnosis by clinicians

Adult Refsum Disease is a genetic disorder impacting the metabolism of phytanic acid. The key symptoms are Retinitis Pigmentosa, loss of smell, hearing loss, numbness, balance issues, itchy skin, shortened fingers and toes. It is one of the few causes of Retinitis Pigmentosa that has a proven dietary therapy to slow vision and hearing loss. Therefore, early diagnosis is critical.


Dr. Bart Leroy is Head of the Department of Ophthalmology, and Staff Member at the Center for Medical Genetics at the Ghent University Hospital and Ghent University, where he has been working since 01/09/2001. He is Full Professor of Ophthalmology and Ophthalmic Genetics at Ghent University. Since August 2013, Bart also has a part-time position (20%) as an attending physician at the Division of Ophthalmology & Center for Cellular & Molecular Therapeutics at Children’s Hospital of Philadelphia, Philadelphia, PA, USA. Bart is an ophthalmologist and clinical geneticist specialized in inherited eye disorders and systemic conditions affecting the eye. In collaboration with Profs J Bennett, AM Maguire and T Aleman at the University of Pennsylvania and Children’s Hospital of Philadelphia, Philadelphia, PA, USA, and the team in Ghent, Bart is involved in phenotyping and genotyping studies and gene therapy projects for inherited retinal blindness. In view of this latter work, he received a Senior Clinical Investigator grant of the Research Foundation – Flanders (Belgium) from 2010 to 2015 & 2015-2020. He is the (co-)recipient of 27 scientific grants and prizes. He is a member and Board member of several professional organizations, including the International Society for Genetic Eye Disease & Retinoblastoma and the Société de la Génétique Ophtalmologique Francophone and the Belgian Ophthalmological Society.

Members can now watch UK-EGG Webinar 2

Members can now watch UK-EGG Webinar 2:
Research Update on Visual Impairment in Ciliopathies

If you are a member of UK-EGG you will have received by the start of next week a members only password for the Zoom Recording of the UK-EGG Webinar 2. Just click on the image above to be taken to our new UK-EGG Webinars page which will over the next months grow in content as we produce more and more webinars.

The webinar is FREE to all members of UK-EGG.

Please Note: to become a member of UK-EGG there is a lifetime membership fee for £25

HOT NEWS: Gene Vision website launched to support those
diagnosed with genetic eye diseases

Gene Vision launched to support those
diagnosed with genetic eye diseases

London, December 01

A new website, Gene Vision, has launched today, developed by Professor Mariya Moosajee and Dr Alex Yeong, supported by Dr Peter Thomas (Director of Digital Innovation at Moorfields Eye Hospital). The new site is intended for adults, children and their families who are diagnosed with rare genetic eye diseases.

The site includes in-depth condition-specific information for patients and their families as well as current research and clinical trials. It will also act as a resource for clinicians and allied healthcare professionals who are diagnosing patients, as well as those in earlier career stages learning about the conditions themselves. In addition, it is anticipated that the site will be used by GPs and other referring specialists so that they can learn more about their patient’s condition quickly and easily, whilst understanding how to provide the best care plan.

Genetic disorders are rare, but together they affect 1 in 25 children in the UK, and contribute to more than 60% of blindness among infants worldwide. Inherited retinal diseases are the commonest cause of blindness among working-age adults generating a huge burden for those with the disease and their families.

“It can be devastating for those receiving rare genetic diagnoses, and frequently patients are not provided with the accurate information they need. Unfortunately, there is also a lack of professional knowledge so patients are not always signposted to relevant resources for information and support, or offered the appropriate investigations, nor information on the latest research and trials, which could really benefit them in the short and long term,” says Professor Moosajee.

“Families deserve to know whether the condition could reoccur in future pregnancies or be passed on to the next generation, or if there are clinical trials they could access. Receiving a genetic diagnosis can cause a great deal of anxiety and worry, hence we needed to develop a trustworthy open-access knowledge resource that complements other credible and accurate information already out there, like the Retina UK website.”

Gene Vision provides in-depth information on conditions and specific genes in a searchable format. There is opportunity to find out about the latest research, external support including specific charities. In addition, an overview of the eye anatomy is provided to give context for those without prior insight.

Gene Vision has been jointly supported and funded by The National Institute for Health Research (NIHR) Biomedical Research Centre (BRC) at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology and Retina UK, a charity which works for people with inherited sight loss. Key medical charities including Microphthalmia, Anophthalmia, Coloboma Support, Aniridia Network, International WAGR Syndrome Association, Nystagmus Network and others have also inputted on content.

The website has been tested by patients with differing levels of sight loss, who use a range of digital accessibility software and magnification devices, together with parents of affected children and health care professionals. It has also had formal design input by digital accessibility consultants who suffer from genetic eye disease themselves. This website is also mobile friendly and so can be accessed anywhere.


New Team Members

Welcome Neeru and Chloe…

Dear Colleagues,

The UK-EGG Executive Committee are pleased to welcome Neeru Vallabh and Chloe Stanton to the Committee as co-directors of seminars for UK-EGG.

Neeru and Chloe will work together to organise online seminars for the UK-EGG community over the next year.

More information to follow.

Updated Genomic Testing Prioritisation

Updated Genomic Testing Prioritisation

Effective Saturday 1st August 2020

Dear Colleagues,

Following the response to the COVID-19 pandemic, NHS England has issued new guidance to genomic laboratories on the prioritisation of work.

From 1st August 2020, all urgent and routine genomic services are returning to business as usual.

Laboratories will continue to process any locally stored samples (non-urgent samples received during the pandemic) and will accept samples from all Genomic Laboratory Hubs for testing.

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

NEW ‘Case Studies’ added to Education Section

Check out the UK-EGG Case Studies section here.

Summer 2020 UK-EGG Newsletter

Check out the Summer 2020 UK-EGG Newsletter here.

Save the Date – Annual Meeting on Monday, 21st June, 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 Monday, 21st June, 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.

To mark the November meeting we will be hosting a webinar and more details will follow!

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

Twitter and ListServ coming to UK-EGG

We are pleased to announce two new initiatives to the UK Eye Genetics Group.

Firstly, we would like to continue discussion between clinicians, geneticists and scientists in the UK-EGG membership around cases, new research or health service provision updates in the COVID era. We have set up a new UK-EGG ListServ:  Details about how to sign up and listserv etiquette to follow shortly in our newsletter.

Secondly, to facilitate wider dissemination of research and clinical updates in eye genetics, we have set up a UK-EGG Twitter account.  Please follow @UKEyeGenetics

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

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.

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

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