“A place to share knowledge on inherited eye disease and train the next generation of clinicians and scientists.”

UK-EGG Conference – Glasgow – 8th November 2019

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


Glasgow 2019 – Photo Gallery

Our 2019 Meeting was this year held on November 8th in the Scotland’s  ‘favourite city’ Glasgow. Our venue was the wonderful Imaging Centre of Excellence (ICE) within Queen Elizabeth University Hospital. After browsing through a number of photographs from the event then enjoy the meeting HD Screencasts. A full report of the meeting is available on the ‘Breaking News’ page.

Glasgow 2019 – Scientific Programme

Scientific Programme UK-EGG Annual Meeting and Conference

8th November, 2019, Glasgow

Imaging Centre of Excellence (ICE), Queen Elizabeth University Hospital, Glasgow





Session 1:  Clinical  –  Chair: Daniela Pilz




David Gilmour – The Spectrum of Inerited Retinal Vasculopathies

Andrew Blaikie – The Genetics of Childhood Visual Impairment in Scotland

Baljean Dhillon – Late-onset Inherited Retinal Disease


Session 2:  Free Paper Session and Interesting Cases  –  Chair:  Carmel Toomes


Omar Mahroo – The importance of an open mind: two examples of re-evaluation of inherited retinal disease patients leading to revision of the published molecular diagnosis





Siying Lin – Consolidating biallelic SDHD mutations as a cause for mitochondrial complex II deficiency

Mark Simcoe – The Genetics of Pigmentary Glaucoma

Samar Yahya – Haploinsufficiency due to heterozygous deletion of CRX causes late-onset retinal disesase

Patient Perspective

Keynote Lecture  –  Chair: Amanda Churchill


Veronica van Heyningen – Disease to Genes and Biology: PAX6 and Progress



Genetic Counsellors to meet – venue to be confirmed

Session 3:   Scientific/Research/emerging therapies Section  –  Chair: Gabrielle Wheway





Mariya Moosajee – Non-viral genetic therapies for inherited eye disease

Veronique Vitart – Building up cornea thickness and resistance: Insights from GWAS

David Fitzpatrick – Disorders of Early Human Eye Development

UK-EGG Business Meeting


Session 4:   Lab/Counselling Section/Interesting Cases  –  Chair: Penny Clouston







Graeme Black & Carol Gardiner – Genetic laboratory services in England and Scotland

Clare Arnison-Newgass – Role of Ophthalmic Nurses in Genetics

Theo Gale – Genetic Counselling Cases

Interesting Case 1

Interesting Case 2

Prize Presentation


Hannah Knight – Genetic basis of inherited retinal disease in a UK cohort of over 2900 families
Samantha Malka – A review of challenges faced during the implementation and coordination of the Genomics England 100,000 Genomes study
Chloe Stanton – A mouse model for Brittle Cornea Syndrome
Mohammed Mustafa – Functional mechanisms underlying the RXRA-COL5A1 signal associated with central corneal thickness and keratoconus
Sunayna Best – Developing variant interpretation pipelines for inherited retinal diseases and ciliopathies: modelling TMEM67

Glasgow 2019 Prizewinners

Poster Prize winner Chloe Stanton

Poster Prize winner Chloe Stanton

Free Paper Prize Winner Siying Lin

Glasgow 2019 – Keynote Speaker

2019 Keynote Lecturer: Veronica Van Heyningen with President Amanda Churchill


16 years of support for ophthalmic clinicians and clinical geneticists