Friday, 31 May

Friday, 31 May

13.00 – 13.30 Opening ceremony, welcome and introduction

Name

Neil Lagali

City and country

Linköping, Sweden

Affiliation

Linköping University

Academic/Professional title

Professor

Short biography

Neil Lagali is professor of experimental ophthalmology at Linköping University, Sweden. He leads a team of researchers focused on cornea research including rare diseases and both basic and clinical aniridia research. He has led large European research efforts to develop new knowledge and treatments for aniridia, including the COST Action ANIRIDIA-NET and EJP-RD project AAK-INSIGHT. He also serves on the scientific committee of Aniridia Europe.

Title of presentation

Introduction and Welcome to European Aniridia Conference 2024

Abstract of presentation

On behalf of the Scientific Organizing Committee of the 7th European Aniridia Conference, and with the generous support of our funders and sponsors, we are pleased to provide an exciting and up-to-date programme featuring the latest expertise, knowledge and innovations concerning aniridia and related ocular and systemic conditions. We are thankful to the expert speakers, both locally and internationally, who will provide stimulating and inspiring insights to promote further networking, collaboration, exchange and research to improve the lives of people with aniridia and as a consequence, other groups of people with related disorders. Knowledge, science, and clinical practice come together in this unique format where patients and patient organizations are also active participants. Looking forward to engaging discussions in Stockholm!

Name

Berit Byström

City and country

Umeå, Sweden

Affiliation

University Hospital of Umeå, and Umeå University

Academic/Professional title

MD, PhD, Docent

Short biography

Docent, Dr Berit Byström is a senior consultant and head of the Corneal section in the University Hospital of Umeå, Sweden. She is a corneal surgeon, and she is also medically responsible for the Eye Bank in the same hospital. Her research is connected to the Dep of Clinical Sciences, Ophthalmology, Umeå University and covers the cornea in different aspects spanning over genetics, molecular perspectives as well as population studies with the use of quality registers. Dr Byström is active in the Swedish Cornea Transplant Register being a member in the steering group.

Title of presentation

Introduction and Welcome to European Aniridia Conference 2024

Name

Branka Samolov

City and country

Solna, Sweden

Affiliation

St Erik Eye Hospital

Academic/Professional title

MD, PhD

Short biography

Cataract and cornea surgeon. Senior consultant at the Anterior Segment Clinic and medical director for the Cornea department, St Erik Eye Hospital. PhD at Karolinska Institutet on Experimental studies of Corneal Neovascularisation. Chair of the steering group for Swedish Cornea Register, a national registry for cornea transplants.

Title of presentation

Introduction and Welcome to European Aniridia Conference 2024

Name

Barbara Poli

City and country

Venice, Italy

Affiliation

Aniridia Europe

Academic/Professional title

President of Aniridia Europe

Short biography

Librarian. Born in 1965 in Venice, Italy. She works at the Library of the Fondazione Querini Stampalia and teaches bibliographic cataloguing at the University Ca’ Foscari in Venice. Her son is affected by aniridia and she has been involved as a patient representative for this rare eye disease since 2003, when she was among the founders of the patient association “Aniridia Italy” and of the federation “Aniridia Europe”. On behalf of the latter, she has participated to the organisation of conferences and to research projects in the field of eye rare diseases.

Title of presentation

Introduction and Welcome to European Aniridia Conference 2024

Name

Ivana Kildsgaard

City and country

Stockholm, Sweden

Affiliation

Aniridia Sweden

Academic/Professional title

President of Aniridia Sweden

Short biography

Ivana is dedicated to supporting aniridia research, recognizing its important role in improving the quality of life for individuals affected by this rare condition. Since 2014, she has served as president of the Swedish Aniridia Association, while in 2016 she got involved in Aniridia Europe as Member of the Board. As a patient representative, Ivana actively participates in several European research projects, like ANIRIDIA-NET Cost Action #CA181169, Aniridia – Novel therapeutic tools to treat or prevent progressive cornea opacification – AAK-INSIGHT, and RESTORE Vision, a four-year project financed by the EU under the HORIZON EUROPE program. She brings a personal perspective to her advocacy, being the parent of a 15-year-old with sporadic aniridia.

Title of presentation

Introduction and Welcome to European Aniridia Conference 2024

Name

Beatrice Peebo

City and country

Stockholm, Sweden

Affiliation

St Erik Eye Hospita

Academic/Professional title

Assistant Professor/Clinic Manager, MD, PhD

Short biography

Current position as Clinic Manager for the Surgery Department at St Erik Eye Hospital and adjunct assistant Professor at Linköping University in collaboration with Professor Neil Lagali.

Title of presentation

Welcome to European Aniridia Conference 2024

13.30 – 14.00 Opening keynote lecture

Name

Tor Paaske Utheim

City and country

Oslo, Norway

Affiliation

Oslo University Hospital

Academic/Professional title

Professor, MD, PhD

Short biography

Eye doctor Tor Paaske Utheim holds ten professorships split between seven universities in Norway and the United Kingdom. He is Director of Research and/or Innovation at eye departments of five hospitals in Norway. He has been rated among the top ten scientists and doctors in Norway based on publications points three years in a row. In 2012, Utheim was awarded a Fulbright Scholarship to Harvard Medical School, followed by an appointment as Adjunct Clinical Associate since 2013. He has received more than 20 academic, research, and innovation awards and honors, including the Oslo University Hospital Early Career Award for outstanding research (NOK 150 000); the Director’s Award for Excellent Research at Oslo University Hospital, Ullevål; the European Society of Ophthalmology Award for the most promising Norwegian Young Clinician/Researcher; and the Medinnova’s Innovation Prize of NOK 250 000. Utheim is the co-founder of the Norwegian Dry Eye Clinic and the Institute of Eye Health.

Title of presentation

Dry eye disease – myths and facts

Abstract of presentation

Dry eye disease is one of the most prevalent diseases in the world. The prevalence is increasing due to our modern lifestyle, such as extensive screen use, contact lenses, and air-condition. It was previously considered primarily a disease of the lacrimal glands, unrelated to inflammation. A recent fundamental change in our understanding of the disease demands new methods for diagnostics and treatment. In the present talk, the latest understanding of dry eye disease will be presented, and myths and facts discussed.

14.00 – 15.00 Glaucoma and aniridia

Amelie Botling Taube
Name

Amelie Botling Taube

City and country

Stockholm, Sweden

Affiliation

St Erik Eye Hospital and Karolinska Institutet, Stockholm

Academic/Professional title

Consultant Ophthalmologist, MD, PhD

Short biography

Amelie Taube is a Consultant Ophthalmologist and Head of the Glaucoma Service at S:t Erik Eye Hospital, Stockholm, Sweden. She did her residency and surgical training at Uppsala University Hospital and obtained her PhD in 2015 on proteomic and epidemiological studies in glaucoma at Uppsala University. Currently, her research focus is exploratory glaucoma treatment. With over 25 years of experience in cataract and glaucoma surgery in adults and children, she has a special interest in pediatric anterior segment and pediatric glaucoma. She has specialised in pediatric glaucoma and is Head of one of two centers for pediatric glaucoma surgery in Sweden. She is also on the board of the Swedish Glaucoma Society.

Title of presentation

Glaucoma in congenital aniridia. Clinical Considerations and Management

Abstract of presentation

Congenital aniridia consists of complex malformations of the eye. Glaucoma is a common feature in aniridia and is a contributing factor to visual deterioration. In this presentation, I will discuss the assessment of glaucoma in inviduals with aniridia, and special considerations regarding their treatment and options in glaucoma surgery. Also, risks and potential complications to surgery will be described.

Name

Peter A. Netland

City and country

Charlottesville, Virginia, United States of America

Affiliation

Department of Ophthalmology, University of Virginia School of Medicine

Academic/Professional title

Vernah Scott Moyston Professor and Chair, MD, PhD

Short biography

Dr Netland is the Verrnah Scott Moyston Professor and Chair of Ophthalmology at UVA. He has recognized expertise in glaucoma management and has been a productive investigator. He has received numerous awards, including the Life Achievement Honor Award from AAO. He has served on numerous committees, and has served as past president of medical and ophthalmology societies, currently serving as President-Elect for the Chandler Grant Glaucoma Society. He serves on numerous committees and non-profit boards. Dr Netland was elected to the AOS in 2009. He was a founder and serves as Chair of the Board for Aniridia North America (ANA).

Title of presentation

Surgical Management of Aniridic Glaucoma

Abstract of presentation

Purpose: to provide updated information about the surgical treatments for glaucoma in aniridia. Methods: Literature and clinical comparative studies regarding surgical management of aniridic glaucoma will be presented. Results: Most children and adults with glaucoma and aniridia present with open-angle glaucoma, with a small proportion presenting with angle-closure associated with prior surgery. Evidence is favorable for use of glaucoma drainage implants in older children and adults with aniridic glaucoma. Retrospective comparisons of minimally-invasive glaucoma surgery (MIGS) in aniridic glaucoma will be presented. Conclusions: Surgical management of aniridic glaucoma is effective for controlling intraocular pressure (IOP) in aniridic glaucoma.

15.30 – 17.00 New research areas in aniridia

Name

James Lauderdale

City and country

Athens, Georgia, United States of America

Affiliation

University of Georgia

Academic/Professional title

Director of Neuroscience, Associate Professor of Cellular Biology

Short biography

I am a developmental neuroscientist with over 30 years of experience studying the vertebrate eye and central nervous system. Much of my research is directed towards understanding the genes causal for human congenital eye disorders, such as aniridia. In addition to my research, I am active in organizations that represent, serve, and support persons affected by aniridia and their families. I am an invited expert for the Scientific Committee of Aniridia Europe and a founding board member and Scientific Chair of Aniridia North America.

Title of presentation

Aniridia and the Brain

Abstract of presentation

The PAX6 gene is essential for normal development and maintenance of the human eye and brain. Heterozygous loss-of-function mutations in PAX6 are causal for the human eye condition known as aniridia. In addition to changes in the eye, individuals with aniridia may also experience a decreased ability to smell, altered hearing, and changes in the functioning of other sensory processing systems. This talk will review what we currently know about non-eye changes associated with mutations in the PAX6 gene

Name

Erlend Christoffer Sommer Landsend

City and country

Oslo, Norway

Affiliation

Oslo University Hospital

Academic/Professional title

MD, PhD

Short biography

I am an ophthalmologist (eye doctor) working mostly with children (pediatric ophthalmologist). My special interest is congenital eye diseases, including aniridia. In 2020, I defended my PhD thesis concerning the ocular surface and ocular fundus in aniridia. This included investigations of dry eye disease and imflammation, and changes in the retina.

Title of presentation

Health-Related Quality of Life in Congenital Aniridia

Abstract of presentation

Purpose: The aims of the presented study were to investigate health-related quality of life (HRQoL) in adults with aniridia and assess the relationships between HRQoL, psychological status, ocular health, and obesity. Methods: Twenty-nine adults with congenital aniridia participated. HRQoL was measured with standardized questionnaires. Symptoms of anxiety, depression, and obesity were assessed. We also analysed sociodemographic characteristics, and ocular and medical health variables.

Results and Conclusion: Adults with congenital aniridia scored worse on certain measures of HRQoL than the general population. Poorer HRQoL was associated with increased symptoms of anxiety, depression, and obesity, and with presence of ocular pain.

Name

Chiara Ancona

City and country

Brescia, Italy

Affiliation

University of Brescia

Academic/Professional title

MD, research fellow

Short biography

Dr Chiara Ancona is an ophthalmologist and Fellow of the European Board of Ophthalmology. She actively participates in research in corneal diseases and transplants. During her research fellow at the University of Brescia in 2023 she developed a keen interest, ended with a master, in narrative medicine. She then applied medicine narrative to the study of congenital aniridia.

Title of presentation

Aniridia Stories: investigating congenital aniridia through narrative medicine

Abstract of presentation

Congenital aniridia has a profound effect on vision, yet there has been limited exploration of the emotional and social dimensions of congenital aniridic patients. In this study, we adopt a narrative medicine approach to shed light on the illness burden experienced by these patients and their informal caregivers, offering valuable insights for clinical practice. We gathered narratives from patients of varying nationalities and ages. Our findings underscore the significance of emotional aspects in clinical interactions, highlighting their role in understanding management challenges and real-life experiences. Psychological support emerges as a critical component, spanning from clinical diagnosis to the entire care journey for both patients and their caregivers.

Name

Renata Schoffer

City and country

Norrköping, Sweden

Affiliation

Ögonkliniken (Eye clinic), Region Östergötland

Academic/Professional title

MD

Short biography

My name is Renata Schoffer and I am a resident doctor in ophthalmology. I started my residency in 2016 in Czech republic with focus on pediatric ophthalmology, especially ROP. My residency in Sweden started in 2019 and my main focus is still pediatric ophthalmology and plastic surgery.

Title of presentation

Subjective symptoms and social consequences for patients with aniridia: results of the pan-European COST survey study

Abstract of presentation

In this study we report results from the European COST ANIRIDIA-NET patient survey study. The subjective symptoms and daily limitations for patients with aniridia related to vision were the focus of a 21-question survey, translated to 12 languages and completed via online platform. Vision, ocular symptoms, social challenges, difficulties in daily situations and activities requiring assistance were among the topics. The survey was completed by 295 aniridia patients ranging in age from few weeks to 79 years, and represented patients living in 15 countries in Europe. Results from this unique survey study will be presented and discussed.

Saturday, 1 June

08.30 – 09.30 Artificial iris, cataract, posterior segment

Name

Vito Romano

City and country

Brescia, Italy

Affiliation

University of Brescia

Academic/Professional title

Professor of Ophthalmology

Short biography

Vito Romano is passionate about translational research and clinical trial design with a special interest in cornea, cataract and refractive surgery, ophthalmic imaging and ocular surface diseases. He is Professor of Ophthalmology at University of Brescia (Italy) with honorary position at the University of Liverpool.

Title of presentation

Artificial iris in aniridia: a dilemma

Abstract of presentation

The talk assesses the use of artificial iris implants in congenital aniridia, focusing on surgical techniques, clinical outcomes, complications, and study biases. It highlights the variability in outcomes and the difficulty in determining which prosthesis yields the best results. Complications, including postoperative glaucoma, are prevalent, and the mechanisms behind these issues remain unclear. Well-designed nonrandomized studies are needed. The subjective symptom improvement among patients is noted, although more quantitative measures are required. The potential benefits of improved vision must be weighed against the risks of complications, such as glaucoma and corneal issues.

Name

Dominique Bremond-Gignac

City and country

Paris, France

Affiliation

University Hospital Necker Enfants malades

Academic/Professional title

Professor

Short biography

Dominique Bremond-Gignac, MD, PhD, FEBO, Professor of Ophthalmology, Head of Ophthalmology Department with pediatric and ocular surface subspecialties at University Hospital Necker-Enfants malades and Paris Cité University in Paris. Head of Paris Orthoptic Department, associate researcher at INSERM UMRS 1138, Team 17 Research Unit, in innovation therapy. Activity is distributed in clinical practice, teaching and research. Involved with patients with aniridia disease and President of Scientific Committee of Aniridia Europe and Gêniris

Title of presentation

Posterior segment anomalies in PAX6 related congenital aniridia

Abstract of presentation

Congenital aniridia PAX6 related is characterized by a hypoplastic or absent iris and foveal hypoplasia. It has been recently shown that, in patients harboring PAX6 mutations, foveal hypoplasia is more frequently encountered than the complete absence of iris. The first study aims to characterize retinal disorders in patients with congenital aniridia PAX6 related and to characterize foveal vasculature by optical coherence tomography angiography. The second study aims to characterize optic disk hypoplasia in congenital aniridia using ultra-wide field imaging and non-mydriatic retinal photography. Finally, we also investigated the relationship between optic disk hypoplasia and foveal hypoplasia.

09.30 – 10.30 Keratopathy in aniridia

Name

Branka Samolov

City and country

Solna, Sweden

Affiliation

St Erik Eye Hospital

Academic/Professional title

MD, PhD

Short biography

Cataract and cornea surgeon. Senior consultant at the Anterior Segment Clinic and medical director for the Cornea department, St Erik Eye Hospital. PhD at Karolinska Institutet on Experimental studies of Corneal Neovascularisation. Chair of the steering group for Swedish Cornea Register, a national registry for cornea transplants.

Title of presentation

Keratopathy in aniridia, clinical features and treatment options

Abstract of presentation

Keratopathy in aniridia is characterized by stem cell deficiency causing destabilization of epithelium and jeopardizing corneal avascularity, both prerequisite for visual ability. Together with altered immune activity and disturbed tear function this leads to impaired corneal sensibility and wound healing, pannus and vessel ingrowth, stromal thickening, reduced corneal transparency and light refracting properties. The stem cell deficiency plays the central role in aniridia-related keratopathy implicating current treatment options and limitations. The lecture covers present evidence and personal experience on surgical methods addressing corneal stem cell deficiency and critical loss of its transparency.

Name

Per Montan

City and country

Solna, Sweden

Affiliation

St Erik Eye Hospital

Academic/Professional title

Assistant Professor, Senior Consultant

Short biography

Cataract surgeon since 1986, medical cornea since 1990 and corneal surgeon since 2000. PhD thesis on vernal keratoconjunctivis in 2000. Author of 55 original articles.

Title of presentation

Keratopathy in aniridia, clinical features and treatment options

Abstract of presentation

Keratopathy in aniridia is characterized by stem cell deficiency causing destabilization of epithelium and jeopardizing corneal avascularity, both prerequisites for visual ability. Together with altered immune activity and disturbed tear function this leads to impaired corneal sensibility and wound healing, pannus and vessel ingrowth, reduced corneal transparency and light refracting properties. The stem cell deficiency plays the central role in aniridia-related keratopathy warranting treatment which all have limitations. The lecture covers present published evidence and personal experience of relevant surgical methods.

Name

Berit Byström

City and country

Umeå, Sweden

Affiliation

University Hospital of Umeå, and Umeå University

Academic/Professional title

MD, PhD, Docent

Short biography

Docent, Dr Berit Byström is a senior consultant and head of the Corneal section in the University Hospital of Umeå, Sweden. She is a corneal surgeon, and she is also medically responsible for the Eye Bank in the same hospital. Her research is connected to the Dep of Clinical Sciences, Ophthalmology, Umeå University and covers the cornea in different aspects spanning over genetics, molecular perspectives as well as population studies with the use of quality registers. Dr Byström is active in the Swedish Cornea Transplant Register being a member in the steering group.

Title of presentation

Lessons learned from a Swedish register study of aniridia

Abstract of presentation

We have examined the frequency, choice of corneal transplantation techniques and outcome in aniridia-related keratopathy (ARK), in Sweden and Denmark between 2001–2016 in cases registered in the Swedish Cornea Transplant Registry. During this time, 36 eyes underwent corneal transplantation due to ARK. Penetrating keratoplasty (PK) was performed in 58.3%, a combination of PK and limbal stem cell transplantation in 13.9%, keratolimbal allograft in another 13.9%, Boston keratoprosthesis in 8.3%, and anterior lamellar keratoplasty was chosen in 5.6% of the cases. Two years follow-up data were available for 26 cases, of which most cases (61.5%) had a graft providing useful vision.

Name

Branka Samolov

City and country

Solna, Sweden

Affiliation

St Erik Eye Hospita

Academic/Professional title

MD, PhD

Short biography

Cataract and cornea surgeon. Senior consultant at the Anterior Segment Clinic and medical director for the Cornea department, St Erik Eye Hospital. PhD at Karolinska Institutet on Experimental studies of Corneal Neovascularisation. Chair of the steering group for Swedish Cornea Register, a national registry for cornea transplants.

Title of presentation

Lessons learned from a Swedish register study of aniridia

Abstract of presentation

We have examined the frequency, choice of corneal transplantation techniques and outcome in aniridia-related keratopathy (ARK), in Sweden and Denmark between 2001–2016 in cases registered in the Swedish Cornea Transplant Registry. During this time, 36 eyes underwent corneal transplantation due to ARK. Penetrating keratoplasty (PK) was performed in 58.3%, a combination of PK and limbal stem cell transplantation in 13.9%, keratolimbal allograft in another 13.9%, Boston keratoprosthesis in 8.3%, and anterior lamellar keratoplasty was chosen in 5.6% of the cases. Two years follow-up data were available for 26 cases, of which most cases (61.5%) had a graft providing useful vision.

Name

Francisco Figueiredo

City and country

Newcastle upon Tyne, United Kingdom

Affiliation

Bioscience Institute, medical School, Newcastle University & Newcastle Hospital NHS Foundation Trust

Academic/Professional title

Professor

Short biography

Prof. Figueiredo, MD, PhD, FRCOphth is a Consultant Ophthalmologist in the Department of Ophthalmology, Royal Victoria Infirmary (Newcastle upon Tyne, UK) and Professor of Ophthalmology at Newcastle University. He has 30 years expertise in the field of clinical and basic science research in ophthalmology, in particular in the management of ocular surface diseases. Prof Figueiredo co-founded the Bowman Club (UK Cornea Society) in 1998 and is the current secretary. He was President of MCLOSA (British Ocular Surface Society; 2012-14). His research has focused on limbal stem cells, corneal graft rejection, corneal graft outcomes, dry eye, ocular surface allergy and pterygium.

Title of presentation

Outcomes of Corneal Transplantation to Treat Aniridia-Associated Keratopathy: Long Term Outcomes from UK Transplant Registry

Abstract of presentation

The outcome of keratoplasty for Aniridia Associated Keratopathy (AAK) are generally poor. This study aims to evaluate the characteristics and outcomes of patients undergoing keratoplasty to treat AAK in the UK A retrospective registry-study, including all patients who underwent keratoplasty to treat AAK between April 2000-March 2021. Data were collected from UK Transplant Registry (NHS Blood and Transplant) at time of transplant, one-year, and two-years post-transplant. Sixty-five AAK patients received keratoplasty, nine grafts failed at one-year which equated to 75% (95% Confidence Interval (CI): 59% -85%) one-year graft survival (Kaplan-Meier). At two-years, graft survival fell to 62% (95% CI: 45%-76%, n=36). BCVA was progressively worse post transplantation. Visual gain post keratoplasty was modest with 92% of patients had 6/60 vision or worst at 2 years. The decision to perform keratoplasty in AAK patients is difficult and must be individually considered.

11.00 – 12.00 Stem cells and aniridia

Name

Berit Byström

City and country

Umeå, Sweden

Affiliation

University Hospital of Umeå, and Umeå University

Academic/Professional title

MD, PhD, Docent

Short biography

Docent, Dr Berit Byström is a senior consultant and head of the Corneal section in the University Hospital of Umeå, Sweden. She is a corneal surgeon, and she is also medically responsible for the Eye Bank in the same hospital. Her research is connected to the Dep of Clinical Sciences, Ophthalmology, Umeå University and covers the cornea in different aspects spanning over genetics, molecular perspectives as well as population studies with the use of quality registers. Dr Byström is active in the Swedish Cornea Transplant Register being a member in the steering group.

Title of presentation

Molecular insights into aniridia-associated keratopathy

Abstract of presentation

Aniridia-related keratopathy (ARK) comprises limbal stem cell deficiency with impaired epithelial cell adhesion, epithelial erosions, corneal conjunctivalization, and formation of a vascular pannus. With the aim to reveal histopathologic changes in ARK, we compared sections of naïve ARK corneas, removed at the time of the first transplantation, and ARK corneal buttons, removed after a failed keratolimbal allograft or failed centered/decentered transplantation, with normal human adult and fetal corneas. All ARK corneas presented analogous features, similar to fetal corneas, irrespective of earlier transplantation method, which advocates an important role for less differentiated host specific factors in the pathophysiology of ARK.

Name

Dulce Lima Cunha

City and country

Nijmegen, Netherlands

Affiliation

Radboud University

Academic/Professional title

Postdoctoral Researcher

Short biography

Dulce Lima Cunha obtained her PhD in Genetics and Genomics in 2018 from the Innsbruck Medical University (Austria), followed by a first postdoc in Mariya Moosajee’s group at UCL Institute of Ophthalmology studying inherited eye disorders, with focus on aniridia. In 2021, she moved to the Netherlands, where she is currently a Postdoc Researcher at Radboud University. Her main research interests are uncovering rare disease mechanisms using induced pluripotent stem cell (iPSC)-derived models and developing novel therapy approaches for aniridia and other rare diseases.

Title of presentation

Multi-omics analysis of aniridia stem cell-derived cornea cells

Abstract of presentation

Most aniridia patients with PAX6 mutations develop aniridia-related keratopathy (ARK), a disorder where the cornea gets progressively opaque, often leading to blindness. Using stem cells generated from aniridia patients, we examined the PAX6 role in development and function of limbal stem cells (LSC), the cells that continuously replenish the central cornea and maintain its transparency. We used RNAseq, a technique that detects gene expression changes, and are currently performing single-cell ATACseq, where we can dissect PAX6 binding sites, in aniridia LSC. These OMICS approaches will help understand the molecular changes in aniridia LSC and find novel targets and mechanisms for developing new therapies for ARK.

Name

Tanja Ilmarinen

City and country

Tampere, Finland

Affiliation

Tampere university

Academic/Professional title

Senior researcher, adjunct professor

Short biography

I joined the Tampere university regenerative medicine team after finishing my PhD in genetics and molecular medicine from the University of Helsinki and Finnish National Public Health Institute. Currently, my research is focusing on development of stem cell-based tools for disease modeling and cell therapy treatments for ocular applications, including limbal stem cell deficiency. I have almost two decades’ experience with pluripotent stem cells including ocular differentiation and characterization of graft functionality in vitro, as well as in preclinical context using different animal models. In addition, I am a co-founder of StemSight, a spin-off company developing cell therapies to address corneal blindness.

Title of presentation

Pluripotent stem cells as tools to study and treat limbal stem cell deficiency

Abstract of presentation

Pluripotent stem cells (PSCs), with their unique ability to differentiate into diverse cell types, have emerged as a transformative tool in disease modeling and therapy. We have established clinically applicable methods to differentiate ocular cells, including limbal stem cells (LSC), from PSCs. These cells have been instrumental in investigating conditions like aniridia and addressing diseases such as LSC deficiency. In this presentation, I will shortly summarize our recent work on LSC lineage commitment of aniridia patient-derived PSCs as well as in vivo transplantation studies with PSC-LSCs.

13.30 – 15.00 Genetics and aniridia

Name

Mariya Moosajee

City and country

London, United Kingdom

Affiliation

Moorfields Eye Hospital and UCL Institute of Ophthalmology

Academic/Professional title

Professor

Short biography

Professor Mariya Moosajee is a clinician scientist; Consultant Ophthalmologist specialising in Genetic Eye Disease and Head of the Genetics Service at Moorfields Eye Hospital, Professor of Molecular Ophthalmology at UCL Institute of Ophthalmology, and Group Leader of Ocular Genomics and Therapeutics at the Francis Crick Institute in London. Her clinical focus is providing a genomic ophthalmology service for children and adults affected with genetic eye disease including aniridia. Her clinical research involves natural history studies to understand disease progression and support clinical trials. In the laboratory, she is advancing our understanding of aniridia using zebrafish disease models and human induced pluripotent stem cell derived retinal and corneal organoids.

Title of presentation

Genetic diagnosis, clinical implications and patient management

Abstract of presentation

Aniridia is a rare congenital pan-ocular condition, which is predominantly caused by mutations involving the PAX6 gene. It is inherited autosomal dominantly with high penetrance, although there is significant intra- and interfamily phenotypic variability, and one-third of cases are sporadic. In this lecture, I will highlight how we manage families presenting with aniridia, the importance of genetic investigation, counselling and implications for future patient care. There are established genotype-phenotype correlations, and as PAX6 is also expressed outside of the eye, including the pancreas and brain, systemic involvement must be considered.

Name

Sophie Valleix

City and country

Paris, France

Affiliation

Cochin Hospital, APHP, Cité University of Paris

Academic/Professional title

Professor

Short biography

Sophie Valleix, MD, PhD, is professor of molecular genetics at Cité University of Paris in France with a biological expertise in the field of rare eye diseases. She is at the head of the molecular diagnosis unit of hereditary ocular disorders, based at Cochin Hospital in Paris, in charge of vitreo-retinal dystrophies, anterior segment dysgenesis disorders, congenital cataracts, and hereditary corneal dystrophies. She is also a molecular geneticist at SeqoIA laboratory, actively involved in the French National project (PFMG_2025) for the implementation of whole genome sequencing of hereditary eye diseases. She is a member of OPHTARA, SENSGENE and ERN-EYE.

Title of presentation

NGS, WGS, optical mapping, and Hi-C tools to solve and interpret pathogenic mechanisms of congenital iris malformations: French experience from a cohort of more than 300 families

Abstract of presentation

To optimize the genetic diagnosis of anterior segment dysgenesis disorders, we combined NGS with WGS for unsolved NGS-cases. We report the genetic spectrum of 337 French families, highlighting new disease-causing variants, and novel associations with neurodevelopmental genes. More importantly, WGS identified “extragenic” structural variants in cis-regulatory regions of PAX6 and PITX2 whose functional “in vivo” consequences on chromatin conformation were addressed by HiC studies from patient tissues. This study highlights the clinical importance of the noncoding genome in the pathogenesis of unsolved cases of aniridia and Axenfeld-Rieger disorders, improving the diagnostic yield of developmental disorders of the iris.

Name

Mariya Moosajee

City and country

London, United Kingdom

Affiliation

Moorfields Eye Hospital and UCL Institute of Ophthalmology

Academic/Professional title

Professor

Short biography

Professor Mariya Moosajee is a clinician scientist; Consultant Ophthalmologist specialising in Genetic Eye Disease and Head of the Genetics Service at Moorfields Eye Hospital, Professor of Molecular Ophthalmology at UCL Institute of Ophthalmology, and Group Leader of Ocular Genomics and Therapeutics at the Francis Crick Institute in London. Her clinical focus is providing a genomic ophthalmology service for children and adults affected with genetic eye disease including aniridia. Her clinical research involves natural history studies to understand disease progression and support clinical trials. In the laboratory, she is advancing our understanding of aniridia using zebrafish disease models and human induced pluripotent stem cell derived retinal and corneal organoids.

Title of presentation

Syndromic aniridia and metabolomics

Abstract of presentation

PAX6-related aniridia is considered to be an isolated pan-ocular condition, but observational studies have revealed systemic features including behavioural difficulties, such as autism and attention-deficit/hyperactivity disorder (ADHD), diabetes and obesity. In this lecture, I will highlight some of the potential syndromic associations and provide an overview of our work investigating the metabolomic differences between aniridia patients and healthy control individuals, and explain how these may relate to signs of systemic involvement

15.30 – 16.30 Management of anirida and challenges for children

Name

Barbara Käsmann-Kellner

City and country

Homburg/Saar, Germany

Affiliation

Dept. of Ophthalmology, University of Saarland, Germany

Academic/Professional title

Professor Dr MD PhD

Short biography

Since many years I am the medical advisor to Anirie-Wagr.de Germany. My main occupation is the care of infant, junior and adult persons with Low Vision. I am retired early due to health reasons since July 1st, 2023. I continue to advise three support groups: Aniridia, Albinism, Achromatospsia. In addition, I am open to any pediatric ophthalmology questions and still lecture in the Department of Ophthalmology, University of Saarland, Germany and participate in research. Aniridia patients have always been the most challenging patients due to the progressive complications – it is a difficult task for the ophthalmologist to accompany the patients during their ordeal.

Title of presentation

Management of infants and children with aniridia at a German national referral center

Abstract of presentation

Thanks to widely available information by internet and other sources like support groups, infants tend to be presented to an aniridia center earlier than about 10 years ago. The most important task is to do genetic analysis to rule out WAGR Syndrome as this may be life-time limiting. At the age of 1 to 2 months one should evaluate visual acuity, morphological parameters (intraocular pressure? Corneal complications?) and prescribe low and high tinted glasses with the measured refraction (diopters). One should introduce early visual support measurements. A thorough information of the patients is mandatory. One should start very early with corneal protective treatment during the day and night. If not already present, a contact to the national support group should be established. Further treatment depends on the possible development of complications, glaucoma being one of the severest forms.

Name

Fabian Fries

City and country

Homburg, Germany

Affiliation

Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany AND Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Saarland University, Homburg/Saar, Germany.

Academic/Professional title

MD

Short biography

Fabian Fries is a senior consultant and ophthalmic surgeon of the Department of Ophthalmology at Saarland University in Homburg. His research interests include the development of aniridia associated keratopathy and the optimization of surgical management in this condition. He is an active clinician at the Homburg Aniridia Centre, which with over 350 aniridia patients, is one of the largest centers of excellence internationally. In addition to his recognized expertise in the clinical management of aniridia, Dr. Fries is a prolific investigator, having authored more than 80 original scientific articles, book chapters, reviews, and published abstracts. He has been working closely with the Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research and COST members to offer patients care based on the latest research findings.

Title of presentation

Management of children with aniridia at a German national referral center

Abstract of presentation

The Homburg Aniridia Register enables more and more patients to be included and, in the long term, to make significant statements on issues with a rarity value. Recent research projects in collaboration with the Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research and the latest results on aniridia-associated keratopathy will be presented.

Name

Dominique Bremond-Gignac

City and country

Paris, France

Affiliation

University Hospital Necker Enfants malades

Academic/Professional title

Professor

Short biography

Dominique Bremond-Gignac, MD, PhD, FEBO, Professor of Ophthalmology, Head of Ophthalmology Department with pediatric and ocular surface subspecialties at University Hospital Necker-Enfants malades and Paris Cité University in Paris. Head of Paris Orthoptic Department, associate researcher at INSERM UMRS 1138, Team 17 Research Unit, in innovation therapy. Activity is distributed in clinical practice, teaching and research. Involved with patients with aniridia disease and President of Scientific Committee of Aniridia Europe and Gêniris.

Title of presentation

Management of aniridia – European guidelines

Abstract of presentation

European reference network and COST Action is dedicated to Rare Eye Diseases.
Clinical Guidelines has been developed by a European group of expert ophthalmologists and from COST Project, geneticists, allied healthcare professionals and patient support groups from European countries. The aim of the guidelines is to support management and follow-up in congenital aniridia as a balanced care by establishing a standard of care for all patients affected. A systematic literature review was carried out using Pubmed and relevant databases. Meetings were organized with experts to define recommendations. Final results will be exposed.

Name

Nóra Szentmáry

City and country

Homburg, Germany

Affiliation

Dr Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Germany

Academic/Professional title

Professor Dr

Short biography

Professor Nóra Szentmáry studied medicine, became an ophthalmologist and received her PhD title at Semmelweis University, Budapest, Hungary. Between 2008–2010, she worked at the Friedrich Alexander University and at Saarland University, Germany, with support of a Humboldt Scholarship. In 2012, she habilitated at the Medical Faculty of Saarland University. She is working as head of the Dr Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research at Saarland University since 2020. She was Head of the Cornea and Ocular Surface Section of the European Association for Vision and Eye Research (EVER) between 2017–2022, and EVER president in 2022–2023.

Title of presentation

Cohort Data from 319 Subjects with Congenital Aniridia at the Schwiete Center

Abstract of presentation

Anirida is a rare disease, with a global prevalence of 1 in 40,000 to 1 in 100,000. There are PAX6 gene-associated and other forms. PAX6 is a master control gene for ocular development in early embryogenesis (weeks 6 to 12). Therefore, PAX6 haploinsufficiency-associated aniridia syndrome affects almost all eye structures, and between those limbal stem cells, resulting in aniridia asssociated keratopathy (AAK). We summarize recent clinical data of the Homburg Aniridia Center, the effect of glaucoma treatment and lens status on AAK, central corneal microstructure, structure of corneal nerves and corneal endothelial cell properties in congenital aniridia.

Sunday, 2 June

08.30 – 10.30 New therapies

Name

Elizabeth M. Simpson

City and country

Vancouver, Canada

Affiliation

The University of British Columbia

Academic/Professional title

Dr

Short biography

Elizabeth M. Simpson, BSc, MSc, PhD, is a leading scientist in mammalian genetics and genomics. The goal of her research is to improve treatment for human disorders of the brain and eye. Currently, she is focused on the development of DNA-based gene therapies in mice. She uses adeno-associated viruses and lipid nanoparticles to deliver both augmentation and genome-editing (CRISPR) therapies for treatment-resistant disorders such as Parkinson disease and aniridia (congenital blindness). Dr. Simpson is a Professor at the University of British Columbia in the Department of Medical Genetics, and an Associate Member in the Department of Ophthalmology & Visual Sciences.

Title of presentation

Gene Therapy Approaches for Aniridia

Abstract of presentation

Aniridia is a rare congenital vision-loss disease caused by heterozygous variants in the PAX6 gene. There is no long-term vision-saving therapy, but gene therapy holds promise for future treatment. Gene therapy uses nucleic acids as reagents to alter cellular behavior and thereby cure disease. Recent successes include the USA Food and Drug Administration (FDA)-approved augmentation gene therapy Luxturna for Leber Congenital Amaurosis 2. FDA-approved clinical trials for genome editing (CRISPR) gene therapies include EDIT-101 for Leber Congenital Amaurosis 10. This seminar will present the most recent work in the Simpson laboratory towards gene therapy for aniridia employing a mouse model.

Andres Vasquez Quintero
Name

Andrés Vásquez Quintero

City and country

Ghent, Belgium

Affiliation

Azalea Vision

Academic/Professional title

Chief Technology Officer/Associate Professor

Short biography

Prof. Dr. Andrés Vásquez Quintero is a highly experienced expert in stretchable electronics and wearable medical devices. He is the founder and CTO of Azalea Vision, a venture-capital-backed startup developing a smart contact lens with an active light management system. He holds a position at Ghent University as Asociate Professor doing research on wearable medical devices.

Title of presentation

Dynamic and customized iris embedded inside a scleral lens for aniridia patients

Abstract of presentation

The lens is designed to benefit people with high order aberrations, presbyopia and light sensitivity (including aniridia, coloboma and ocular albinism). In this talk, Andrés will discuss the major technological milestones at Azalea Vision. Additionally, he will present the optical models and impact on visual acuity of small dynamic aperture on large pupils.

Name

Andrew Hopkinson

City and country

Nottingham, UK

Affiliation

University of Nottingham

Academic/Professional title

Associate Professor

Short biography

Dr. Andrew Hopkinson, PhD, serves as the Chief Scientific Officer and founder of NuVision, and holds an honorary position as Associate Professor at the University of Nottingham. With 18 years in translational research in ophthalmic regenerative medicine at the University’s Centre For Eye Research, Andrew’s work has significantly advanced therapies for ocular surface repair and visual rehabilitation. His research primarily focused on amniotic membrane properties, leading to the innovative Tereo process and Omnigen production. Dr. Hopkinson has pioneered groundbreaking discoveries, such as a dehydrated human cornea and corneal-derived stem cell therapy, progressing from concept to pre-clinical stages. His academic career boasts over 50 scientific publications, 4 patents, and aims to develop a future portfolio of Biotherapies for clinical translation at NuVision.

Title of presentation

Innovations in sutureless transplantation of amniotic membrane for the outpatient management of ocular surface diseases.

Abstract of presentation

The use of human amniotic membrane (AM) in clinical ophthalmology has seen a significant rise, particularly with the advent of sutureless application methods. Recognised for its anti-inflammatory, anti-angiogenic, anti-fibrotic, and wound-healing properties, AM is now extensively utilised in treating both acute and chronic ocular surface diseases (OSD). Omnigen®, an innovative dehydrated AM product, addresses the limitations of traditional products, offering an accessible, effective, and user-friendly ‘off the shelf’ treatment option. The noval application of Omnigen with OmniLenz®, a bespoke contact lens, allows for sutureless, outpatient application, streamlining and advancing the treatment of OSD. This session explores the scientific foundation and clinical outcomes of this novel transplantation technique, underscoring its importance in enhancing OSD management.

Name

Martin Collinson

City and country

TBA

Affiliation

TBA

Academic/Professional title

TBA

Short biography

TBA

Title of presentation

TBA

Abstract of presentation

TBA

Name

Karina Hadrian

City and country

Cologne, Germany

Affiliation

University Hospital of Cologne

Academic/Professional title

PhD

Short biography

After a Bachelor’s degree and a Master’s degree in Biochemistry and Molecular Medicine from Ruhr-University Bochum, Germany, I graduated from University Duisburg-Essen in 2019 with a PhD in Biology (summa cum laude) focusing on aging of the retinal pigment epithelium. Afterward, I started as a Postdoc in the lab of Prof. Cursiefen in Cologne, Germany focusing on corneal repair after inflammation.

Title of presentation

New age-dependent aniridia-like mouse model

Abstract of presentation

The Aey 80 mutant mouse was initially characterized as small-eye phenotype during development. We could now show that this mutation results in an age-dependent aniridia-like phenotype. This is characterized by reduced iris dimensions and reduced anterior chamber depth. Additionally, the mutation induces shifts in corneal thickness and a substantial ingrowth of lymphatic vessels into the cornea, accompanied by increased intraocular pressure. These alterations demonstrate the pivotal role of Pax6 in maintaining the structural integrity and functionality of the eye across different developmental stages.

Name

Dina Javidjam

City and country

Linköping, Sweden

Affiliation

Linköping University hospital, Department of Biomedical and Clinical Sciences (BKV)

Academic/Professional title

PhD Candidate

Short biography

My name is Dina Javidjam. I possess a bachelor’s in molecular biology and a master’s in clinical biochemistry from Mashhad University of Medical Sciences, Iran. My expertise lies in limbal stem cell culture on the amniotic membrane for transplantation, as showcased in my master’s thesis centered on optimization. My passion for addressing Limbal Stem Cell Deficiency (LSCD) led me to contribute as a researcher at Charles University, Czech Republic, focusing on the long-term preservation of cultured limbal stem cells for clinical applications. Presently, I am a PhD candidate at Linköping University, Sweden. My research concentrates on Aniridia Associated Keratopathy (AAK).

Title of presentation

129S1/Svlmj Pax6 small-eye mice: A novel model for investigating innovative Aniridia Associated Keratopathy (AAK) therapies

Abstract of presentation

Aniridia-associated keratopathy (AAK) is a progressive corneal opacification associated with a deficiency of limbal stem cells. Existing treatments only temporarily relieve symptoms. To develop novel treatments, understanding the limbal niche’s processes and PAX6’s role is crucial. Mouse models with aniridia often have advanced AAK observable shortly after birth. In our study, we characterize a Pax6Sey mouse recapitulating the human situation with delayed onset of AAK. We describe the model, features of the keratopathy and limbal niche, and evaluate new potential therapeutic options.

Name

Neil Lagali

City and country

Linköping, Sweden

Affiliation

Linköping University

Academic/Professional title

Professor

Short biography

Neil Lagali is professor of experimental ophthalmology at Linköping University, Sweden. He leads a team of researchers focused on cornea research including rare diseases and both basic and clinical aniridia research. He has led large European research efforts to develop new knowledge and treatments for aniridia, including the COST Action ANIRIDIA-NET and EJP-RD project AAK-INSIGHT. He also serves on the scientific committee of Aniridia Europe.

Title of presentation

Popular summary for patients and associations

12.15 – 12.30 Closing ceremony and acknowledgements

Name

Branka Samolov

City and country

Solna, Sweden

Affiliation

St Erik Eye Hospital

Academic/Professional title

MD, PhD

Short biography

Cataract and cornea surgeon. Senior consultant at the Anterior Segment Clinic and medical director for the Cornea department, St Erik Eye Hospital. PhD at Karolinska Institutet on Experimental studies of Corneal Neovascularisation. Chair of the stearing group for Swedish Cornea Register, a national registry for cornea transplants.

Title of presentation

Closing ceremony and acknowledgements

Name

Berit Byström

City and country

Umeå, Sweden

Affiliation

University Hospital of Umeå, and Umeå University

Academic/Professional title

MD, PhD, Docent

Short biography

Docent, Dr Berit Byström is a senior consultant and head of the Corneal section in the University Hospital of Umeå, Sweden. She is a corneal surgeon, and she is also medically responsible for the Eye Bank in the same hospital. Her research is connected to the Dep of Clinical Sciences, Ophthalmology, Umeå University and covers the cornea in different aspects spanning over genetics, molecular perspectives as well as population studies with the use of quality registers. Dr Byström is active in the Swedish Cornea Transplant Register being a member in the steering group.

Title of presentation

Closing ceremony and acknowledgements

Name

Neil Lagali

City and country

Linköping, Sweden

Affiliation

Linköping University

Academic/Professional title

Professor

Short biography

Neil Lagali is professor of experimental ophthalmology at Linköping University, Sweden. He leads a team of researchers focused on cornea research including rare diseases and both basic and clinical aniridia research. He has led large European research efforts to develop new knowledge and treatments for aniridia, including the COST Action ANIRIDIA-NET and EJP-RD project AAK-INSIGHT. He also serves on the scientific committee of Aniridia Europe.

Title of presentation

Closing ceremony and acknowledgements

Name

Neven Milivojevic

City and country

Solna, Sweden

Affiliation

Aniridia Sweden

Academic/Professional title

Founder and Vice President of Aniridia Sweden

Short biography

Neven Milivojevic, a diagnosis carrier himself, founded Aniridia Sweden nearly 20 years ago, originally named The network for aniridia in Sweden. He was also the co-founder of the European federation Aniridia Europe and its first Vice President. He has an extensive experience of working with several Swedish non-governmental organisations. Professionally he has been involved in international cooperation development, and has been a political adviser at both local, regional and national level, an elected City council member, a teacher at Uppsala University and has done senior advocacy work nationally as well as internationally. As an 18-year old, Neven was awarded an international title in chess (FIDE-Master), and has since been searching for the right ways forward in life.

Title of presentation

Closing ceremony and acknowledgements

Name

Ivana Kildsgaard

City and country

Stockholm, Sweden

Affiliation

Aniridia Sweden

Academic/Professional title

President of Aniridia Sweden

Short biography

Ivana is dedicated to supporting aniridia research, recognizing its important role in improving the quality of life for individuals affected by this rare condition. Since 2014, she has served as president of the Swedish Aniridia Association, while in 2016 she got involved in Aniridia Europe as Member of the Board. As a patient representative, Ivana actively participates in several European research projects, like ANIRIDIA-NET Cost Action #CA181169, Aniridia – Novel therapeutic tools to treat or prevent progressive cornea opacification – AAK-INSIGHT, and RESTORE Vision, a four-year project financed by the EU under the HORIZON EUROPE program. She brings a personal perspective to her advocacy, being the parent of a 15-year-old with sporadic aniridia.

Title of presentation

Closing ceremony and acknowledgements

Name

Barbara Poli

City and country

Venice, Italy

Affiliation

Aniridia Europe

Academic/Professional title

President of Aniridia Europ

Short biography

Librarian. Born in 1965 in Venice, Italy. She works at the Library of the Fondazione Querini Stampalia and teaches bibliographic cataloguing at the University Ca’ Foscari in Venice. Her son is affected by aniridia and she has been involved as a patient representative for this rare eye disease since 2003, when she was among the founders of the patient association “Aniridia Italy” and of the federation “Aniridia Europe”. On behalf of the latter, she has participated to the organisation of conferences and to research projects in the field of eye rare diseases.

Title of presentation

Closing ceremony and acknowledgements

Skip to content