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

Previous Meetings

2019 Glasgow UK-EGG Annual Meeting

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


2018 – Birmingham

Our 2018 Meeting was this year held on November 1st in the UK’s ‘second city’ Birmingham. Our venue was the wonderful Birmingham Childrens Hospital. Whilst you wait for the meeting HD Screencasts to be composed then reviewed, why not browse through our favourite photographs of the event. A full report of the meeting together with screencasts are available here. Please contact if you have not received the password to access these.

2017 – Leeds

Filling up Fast:

Did you miss the Joint UK-EGG and ISGEDR Meeting last September? Want to revisit Andreas Gal’s wonderful François Lecture? Never fear, almost sixteen hours of HD Screencasts covering all three days of presentations including Parallel Session are AVAILABLE NOW…

16th November 2017

12th Annual meeting of UK-EGG

September 14th to 16th, 2017

This year’s annual conference was held jointly with the International Society for Genetic Eye Diseases and Retinoblastoma (ISGEDR). We had 180 delegates from 20 countries for a three day meeting at the Rose Bowl in Leeds. There was a full programme with invited speakers, submitted abstracts and concurrent sessions on a wide range of topics around science discovery, clinical management, updates on treatment trials, clinical case discussion and patient experiences. For the full programme, click here.

Co-hosting a joint meeting was a great success, attracting international researchers and clinicians across the field of ophthalmic genetics, giving an opportunity to showcase work from the UK and importantly provided a great environment to develop new international collaborations and working relationships. The quality of the presentations, both spoken and posters, were excellent, it was a highly informative and dynamic meeting.

We extend our thanks to our inaugural UK-EGG keynote lecturer Professor Andrew Read, to the joint organizing committee, especially Amanda Churchill from UK EGG and the joint scientific committee. We are also very grateful to the host team in Leeds for organizing such a professional meeting in an excellent venue and a great conference dinner (Carmel Toomes, Chris Inglehearn, Martin McKibbin.

For UK-EGG members to the meeting, please view the lectures from the meeting here. Please contact if you have not received the password to access these.

Georgina Hall
Outgoing Chair UK EGG

2017 Joint UK-EGG and ISGEDR Meeting Screencasts

Available NOW:

To give you a flavour of the meeting, here is our Montage Video:

Access to the screencasts is on a Members Only password-protected page:

Meeting Screencasts

To view the screencasts you will need a password, which should have been sent to you recently. Contact either of the following: Catherine Willis or Stuart Ingram if you haven’t received your password.

Links to our other Screencasts

UK-EGG meeting 2016 – Southampton

Another excellent UK-EGG meeting hosted by Professor Andrew Lotery and his colleagues in Southampton with a series of lectures and cases on extremely interesting and highly relevant topics.

Professor Andrew Lotery

To view the programme please click here.

UK-EGG 2016 PhD Prize

Katie  Williams receiving the PhD Prize at UK-EGG meeting 2016 held in Southampton, congratulated by Prof Susie Downes outgoing Chair of UK EGG.


Friday 25th November 2016 9:00 – 17:30.

Grand Harbour Hotel
West Quay Road
Southampton,  SO15 1AG

Click here to see the Southampton 2016 UK EGG meeting poster.

2016 – The EyeTN Final Conference

The EyeTN Final Conference

Montpellier, France – 22-23 June 2016

EyeTN Montpellier Programme

2015 – Manchester – Whitworth Art Gallery

Whitworth Art Gallery

The University of Manchester

Oxford Road


M15 6ER

09:30-10.00 Welcome – Update on Gene Therapy Oxford – R. MacLaren
10:00-10:15 Genetic Testing in Manchester – G. Black
10:15-10:30 Genetic Testing in Oxford – P. Clouston
10:30-11:00 UK Specialist Commissioning – A. Davies
11:00-11.30 TEA
11:30-11.50 Genetics of Glaucoma – A.Viswanathan
 11:50-12:10 Optic Nerve – M. Votruba   
12:10-12.30 Nystagmus – J. Self, Southampton
12:30-12:50  Functional Gene Testing – M. Cheetham
12:50-14:00 LUNCH

Case Presentations: 

  • Alan Fryer 
  • Prof. Jill Clayton-Smith 
  • Amanda Churchill:- 
    • “Unusual Ushers”  
    • “Retinal Dystrophy and the 105 Retinal Gene Panel” 
  • Dr Gavin Arno:-
    • “A series of exome sequencing mutations identified in syndromic genes in apparently non-syndromic retinal dystrophy cases”
15:15-15:45 Initiative on Rare Diseases – T. Moore
15:45-16:15 TEA
16.15-16:45 UK EGG Update

2014 – Oxford – St John’s College


St John’s College




09:30-10.00 Welcome – Update on Gene Therapy Oxford – R. MacLaren
10:00-10:15 Genetic Testing in Manchester – G. Black
10:15-10:30 Genetic Testing in Oxford – P. Clouston
10:30-11:00 UK Specialist Commissioning – A. Davies
11:00-11.30 TEA
11:30-11.50 Genetics of Glaucoma – A.Viswanathan
 11:50-12:10 Optic Nerve – M. Votruba
12:10-12.30 Nystagmus – J. Self, Southampton
12:30-12:50  Functional Gene Testing – M. Cheetham
12:50-14:00 LUNCH

Case Presentations:

  • Alan Fryer
  • Prof. Jill Clayton-Smith
  • Amanda Churchill:-
    • “Unusual Ushers”
    • “Retinal Dystrophy and the 105 Retinal Gene Panel”
  • Dr Gavin Arno:-
    • “A series of exome sequencing mutations identified in syndromic genes in apparently non-syndromic retinal dystrophy cases”
15:15-15:45 Initiative on Rare Diseases – T. Moore
15:45-16:15 TEA
16.15-16:45 UK EGG Update

2013 – London – UCL and GOSH

2013 – UCL Institute of Child Health

Kennedy Lecture Theatre

and Great Ormond Street Hospital for Children




Opening – Professor Jane Sowden
  Session I – Chair:  Jane Sowden


Glaucoma Genetics – genome wide association studies and rare variants: Professor Christopher Hammond, Frost Chair of Ophthalmology, Kings College, London


Mitochondrial eye disorders – an update: Dr Patrick  Yu-Wai-Man, Newcastle University


Neonatal corneal opacities – genetics and interventions: Professor Ken K Nischal, Childrens Hospital of Pittsburgh


Finding new genetic causes of childhood blindness by homozygosity mapping: Dr Daniel Kelberman, UCL Institute of Child Health
  Session II – Chair: Dr Lily Islam, UCL Institute of Child Health


Rare genetic variants in developmental eye disease and coloboma – the UK10K project and future clinical application: Professor David FitzPatrick, MRC Human Genetics Unit, Edinburgh


X-linked eye diseases: Professor Alison Hardcastle, UCL Institute of Ophthalmology London   


Broadening horizons in the genetics service laboratory:
Dr NickLench, Regional Genetics Service, Great Ormond
Street Hospital


 Ethical dilemmas of whole genome analysis:  Professor
 Maria Bitner-Glindzicz, UCL Institute of Child Health & Great
 Ormond Street Hospital

12:55 -14:00

  Session III – Chair:  Alison Hardcastle, UCL Institute of Ophthalmology


Usher Syndrome – diagnosis and future treatments:Professor Andrew Webster, UCL Institute of Ophthalmology and Moorfields Eye Hospital


Retinal dysfunction and congenital glycosylation disorders: Dr Dorothy Thompson, Great Ormond Street Hospital 


A patient-led model of care for families with inherited retinal dystrophy: Professor Graeme Black, University of Manchester and Central Manchester University Hospital


Stem cell therapy for retinal disease: Dr Jorn Lakowski, UCL Institute of Child Health

15:20 -15:45

  Session IV – Chair:  Ms Isabelle Russell-Eggitt, Great Ormond Street Hospital


New UK EGG constitution and business meeting: Ms Susie Downes, Oxford Eye Hospital and University of Oxford


Cases/short reports: contributions from attendees – diagnostic and counselling dilemmas  



2012 – Bristol – University of Bristol

University of Bristol

Lecture Theatre 1

Medical Education Centre

Upper Maudlin Street





Introduction – Amanda Churchill


PITX2 /FOXC1 NHS Service – Kenny Smith
10:30 UK Stickler Service – Martin Snead


Attitudes to Genetic Testing – Martin McKibbin


Findings of the ‘Regard Study’ – Graeme Black
 11:50 UK Genetic Testing Service for Retinal Disease – Susie Downes


Mitochondrial Mutations and Eye Disease – Marcela Votruba


 Stem Cell Treatments in Retinal Disease – Pete Coffey

13:00 -13:55

13:55 Interesting Cases – Contributions from Attendees
 14:30 Genetics of Age-Related Macular Degeneration – Andrew Lotery
14:50 Pharmacogenetics in Eye Disease – Denize Atan/Amanda Churchill

15:05 -15:30

 15:30 UK EGG Business Meeting – Amanda Churchill


 Uses of Next Generation Sequencing in Rare Diseases – Ruth  Newbury-Ecob/Maggie Williams
16:10  Approaches to Genetic Studies of Common Disease – Ian Day
 16:45  CLOSE

2011 – Oxford – St Anne’s College

Oxford University

The Tsuzuki Lecture Theatre

St Anne’s College

Woodstock Road

Oxford. OX2 6HS




Introduction:  Susan Downes


Inherited Retinal Degenerations. Where are we now and what next?  Alan Wright
10:30 Genetic testing in the UK – current status: Graeme Black


Genetic testing in Belgium:  Bart Leroy
11:10-11:30 Tea


Genetic testing NGS current status: Andrea Nemeth, Simon Ramsden
 12:10 X-linked Retinitis Pigmentosa – update: Alison Hardcastle
12:30-13:30 Lunch
13:30 Developmental gene testing update: David Robinson
13:50 Interesting Cases: Contributions from attendees
 15:20 Future interventions therapies: Jim Bainbridge
15:45-16:00 Summary/AOB: Susan Downes

2009 – Birmingham – City Hospital

Post Graduate Centre

City Hospital

Dudley Road


B18 7QH


Registration and Coffee




Session One:  Retinoblastoma – the Birmingham Experience –John Ainsworth, Consultant Paediatric Ophthalmologist and Dr Trevor Cole, Consultant Geneticist
11:15-11:45 Coffee

Session Two

Cases from the Floor – to include Best Trainee Prize



Session Three

The Use of Autozygosity Mapping in the Identification of Rare Autosomal Recessive Conditions


Nonsense Mutation in TMEM126A causing Autosomal Recessive Optic Neuropathy and Auditory Neuropathy – Professor Eamonn Maher, Professor of Medical Genetics, Birmingham


A New Bardet-Biedl Syndrome Locus – Dr Geoff Woods, Consultant Geneticist, Cambridge


Homozygosity Mapping used to Identify Genes for Microphthalmia and Anophthalmia: FOXE3…  – Miss Nicky Ragge, Honorary Consultant in Paediatric Ophthalmology, Birmingham 


Mutations in the Putative Mg2+ Transporter CNNM4 Cause Amelogenesis Imperfecta and Cone-Rod Dystrophy – Professor Chris Ingelhearn, Professor of Molecular Ophthalmology, University of Leeds 


Presentation of Trainee Prize followed by Tea 

Session Four

The Eye in Complex Disorders


Von Hippel Lindau Disease – Professor Eamonn Maher 


Optic Tumours in the Neurofibromatosis – Tim Matthews, Consultant Ophthalmologist, Birmingham 


The Contribution of the Clinical Scientist to the Diagnosis and Assessment of Genetic Eye Disease – Dr Peter Good, Consultant Clinical Scientist, Birmingham 


Summary and Future Plans 


aClose of Meeting

2008 – Cardiff



  Welcome – Marcela Votruba and Patrick Watts
  Retinoblastoma – Chair:  Patrick Watts


Genetic Testing and Management of Retinoblastoma – Professor Graham Black and Professor Anna O’Grady, Manchester


Genetic Testing and Ophthalmic Screening for Retinoblastoma – case discussions – Dr Helen Stewart, Oxford
10:30-11:00 Coffee and Networking
  Genetic Studies – Chair:  Tony Moore


The Epidemiology of Childhood Onset Hereditary Retinal Disorders – Dr Esther Hamblion, MEH/IOO/ICH


Leber Congenital Amaurosis – Phenotype-Genotype Correlation –Dr Martin McKibbin, Leeds


Update on AMD Genetics – Professor Andrew Lotery, Southampton 


Genetic Profiling in Angiogenic Eye Disease – Dr Amanda Churchill, Bristol 
12:30-13:30 Lunch
  Genetic Therapy and Testing Update – Chair:  Marcela Votruba


The Influence of Microglia on Retinal Progenitor Cell Turnover and Cell Replacement – Professor Andrew Dick, Bristol


Prospects for Therapy for Childhood Retinal Dystrophies –Professor Tony Moore, UCL


Developing a new NHS Genetic Test: OPA 1 and Inherited Optic Neuropathy – Dr Rachel Butler
 15:00-15:20 Tea and Networking
  Cases from the Floor – Chair:  Patrick Watts and Marcela Votruba


 Clinical Cases from the Floor


Summary and Future Plans – Dr Marcela Votruba


Close of Meeting

2006 – Manchester – NOWGEN Centre




Registration and Coffee

 Session One

Novel Treatments for Retinal Disease


Update of Gene Therapy Modalities – the RPE65 Trial – Tony Moore, UCL


Stem Cells in the Treatment of Retinal Dystrophies – Robert McLaren, UCL


Opticin: a Vitreous-Derived Anti-Angiogenic? – Paul Bishop, Manchester


Session Two:  Unusual Cases from the Floor



Session Three

Update on Genetic Testing and Provision of Genetic Services


What the UK GTN can offer Ophthalmology – Jo Whittaker,Cambridge


Update on Genetics of AMD – Andrew Webster, UCL


Should there be Genetic Testing for AMD?  Discussion to be led by Alan Wright, Edinburgh


Update of Genetic Testing(i) XLRP/ADRP – Niki Hart-Holden, Manchester, James O’Sullivan, Manchester

(ii) Open Discussion:  Who Should Pay for Genetic Testing? – to be chaired by Susie Downes

2005 – London – Institute of Child Health

Institute of Child Health


09:30 Registration/Coffee
£40 (please bring cash or cheque – no credit cards)
10:00 Opening Remarks – Susie/Andrew
10:05 X-linked retinoschisis (XLRS) in the clinic – the impact of genetic testing – Professor Dorothy Trump
10:30 XLRS genetic testing – Dr Jo Whittaker, Cambridge
11:00-11:15 Coffee
 11:15 The MRC gene service and whole genome amplication – Dr Cheng Eng Ang
 11:50 The Illumina platform and the advent of full genome association scans – Sandy McBean
12:30-13:30 Lunch
13:30 The UK-GTN history, philosophy and future – Professor Peter Farndon, Birmingham
14:15 An ‘Eye-Genetic Strategy Document’ – Helen Stewart, Oxford
 14:30 Progress in laboratory testing for XLRP and Sorsby. Future service developments in RP – Simon Ramsden, Jacqueline Rice and Nicki Hart-Holden, Manchester
 15:00-15:15 Tea

Consultation cases and discussion issues – members of EGG. Approximately 10 minutes each:

  • Jo Allard, Oxford – Dept of Health initiative for genetic counselling; genetic testing in childhood
  • Patrick Watts, Cardiff
  • Zubin Saihan, London – The National Collaborative Usher Study – purpose and progress
  • David Robinson, Salisbury
  • Sharon Jenkins, London – a family with a rare form of retinal degeneration
  • Robert Henderson, London – Leber’s Congenital Amaurosis – the genotype-phenotype correlations of RPE65
  • Kevin Gregory-Evans, London – When two wrongs DO make a right
  • Cheryl Gregory-Evans, London
  • Susie Downes/Andrea Nemeth, Oxford
16:45 Summary and Close

Proposed date and venue for next meeting:
February 2006 in Manchester

2003 – Oxford – St Catherine’s College

St Catherine’s College


09:30 Registration/Coffee
10:00 Welcome – Chairman, Alan Bird
10:10 Genetic Knowledge Parks – Jenny Taylor
10:40 Gene Testing Update from Manchester/Wessex labs – Rob Ellis/Graeme Black, Oxford and other Centres re gene testing (UKGTN)
11:30-11:45 Coffee

Update re website UKEGG – Susie Downes/Andrew Webster

Constitution of UKEGG – Helen Stewart

 12:10 White paper GENCAG/UKGTN – Anneke Seller/Rob Ellis
12:30-13:30 Lunch
13:30 Future therapeutics/intervention strategies in inherited retinal degenerations – Andrew Webster
14:00 Genetic testing in childhood – Denise Williams
14:30 Legal aspects in genetic testing – Charles Foster
 15:00-15:30 Tea
15:30 Consultation Cases
16:15 Summary and Close


16 years of support for ophthalmic clinicians and clinical geneticists