Friday, 17 April 2026
13.30-14.00 Opening ceremony, welcome and introduction
Christina Grupcheva
Sofia, Bulgaria
Bulgarian Academy of Science, UMBAL Medica-Russe, Grupchevi PLUS-Varna
MD, PhD, FEBO, FICO, FIACLE, FBCLA
Prof. Dr. CN Grupcheva MD, PhD, FEBO, FICO, FIACLE, FBCLA, is a Bulgarian medical doctor, specialist in ophthalmology since 1996. She continued her studies with short fellowships at Moorfields Eye Hospital, London and Dundee University, UK. In 2000 she relocated to New Zealand as a Senior Research Fellow at Auckland University for three years. During that period, she completed a PhD with high commendations and Best Doctorial Thesis Prize of Auckland University for 2002. She relocated to her home country to serve as a high level academic and medical director. During her career, she served as a Head of ophthalmology department for 12 years and Vice Recor for 10. She is corresponding member of the Bulgarian Academy of Science and active member of esteemed learned societies as Academia Ophthalmologica Internationalis, European Society of Cataract and Refractive Surgery (elected council member) and more. She has published more than 180 scientific papers and 17 ophthalmology books. She has Hi index of 48 and more than 3000 citations. Professor Grupcheva teaches at all graduate and postgraduate levels and is/was a supervisor of 28 PhD students and 22 residents in ophthalmology. She is the past president of the European Board of Ophthalmology and current President of Bulgarian Ophthalmological Society. Currently she serves as TFOS ambassador for Bulgaria.
Introduction and Welcome to European Aniridia Conference 2026
Barbara Poli
Venice, Italy
Aniridia Europe
President of Aniridia Europe
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.
Introduction and Welcome to European Aniridia Conference 2026
Elena Tsoneva
Sofia, Bulgaria
Aniridia Europe, Aniridia Bulgaria
President of Aniridia Bulgaria, Secretary of Aniridia Europe
Elena Tsovena is the mother of an adult daughter with WAGR Syndrome. Elena and her family (including an adult son) are originally from Bulgaria and have been living in London, England, since 2014. She was recently awarded a Master of Science in Accounting & Financial Management from Anglia Ruskin University, London.
In 2012, she co-founded Aniridia Bulgaria and has since served as its president. Elena also co-founded Aniridia Europe in 2011 and, in 2022, was elected Secretary. In this role, she manages various administrative tasks, including organising events, maintaining databases, and creating detailed reports. Her role also involves collaborating with patient organisations and actively participating in conferences, seminars, and workshops. She is also a member of the Aniridia Network UK.
Introduction and Welcome to European Aniridia Conference 2026
14.00-14.30 Opening keynote lecture
Yoshinore Oie
Suita, Japan
The University of Osaka
Associate Professor
2001-2003 Resident, Department of Ophthalmology, Osaka University Hospital
2003-2006 Clinical fellow, Department of Ophthalmology, Osaka Rosai Hospital
2006-2010 Graduate school student, Osaka University Graduate School of Medicine.
2010-2011 Clinical fellow, Department of Ophthalmology, Tohoku University Hospital
2011-2013 Clinical fellow, Department of Ophthalmology, Osaka University Hospital
2013-2023 Assistant professor, Department of Ophthalmology, Osaka University Graduate School of Medicine
2023-present Associate professor, Department of Ophthalmology, Osaka University Graduate School of Medicine
Novel Therapeutic Approaches and Clinical Guidelines for Aniridia
Aniridia is a rare congenital eye disease characterized by panocular involvement, including limbal stem cell deficiency, progressive keratopathy, cataract, glaucoma, and foveal hypoplasia. Owing to its rarity and marked clinical heterogeneity, the development of standardized, evidence-based management strategies has historically been difficult, resulting in significant variability in clinical care.
In recent years, novel therapeutic approaches for aniridia have rapidly evolved, particularly in the field of regenerative medicine. Somatic stem cell–based therapies, including cultivated oral mucosal epithelial cell sheet transplantation for limbal stem cell deficiency, have provided new options for ocular surface reconstruction and visual rehabilitation. In parallel, advances in induced pluripotent stem cell (iPS cell) technology have enabled the development of iPS cell–derived corneal epithelial cell sheets, offering the potential for regenerative therapies.
As therapeutic options expand, the establishment of clinical guidelines becomes increasingly important to ensure consistent and equitable care for patients with rare diseases. In Japan, we have developed clinical practice guidelines for aniridia through a government-supported rare disease research program (Research Group on Policy for Intractable/Rare Diseases, Ministry of Health, Labour and Welfare, Japan). This initiative integrated available clinical evidence, expert consensus, and patient perspectives to address therapeutic decision-making and long-term follow-up.
This lecture will review recent advances in novel therapeutic approaches for aniridia, with a particular focus on regenerative medicine. It will also discuss the development of clinical practice guidelines within a national rare disease framework and their role in translating evidence into standardised clinical care. By linking cutting-edge therapies with structured guideline-based care, this presentation aims to illustrate a practical model for improving outcomes in aniridia.
14.30-16.00 Session 1: From bed to bench and back – stem cell research as a new hope for aniridia patients
Neil Lagali
Linköping, Sweden
Linköping University
Professor
Neil Lagali is full Professor of Experimental Ophthalmology at Linköping University, Sweden, where he leads a team of researchers focusing on the genetic and molecular basis of common and rare eye diseases with a special interest in aniridia and aniridia-associated keratopathy (AAK), performing research in this area for over 15 years. The team’s focus is to better understand the genetic, molecular, and physiological origins of AAK and to develop new pharmacotherapies. He has led large European consortia such as the EU COST Action ANIRIDIA-NET and has examined the corneas of aniridia patients in many European countries. He currently has over 150 publications in the field of eye research.
Session 1: From bed to bench and back – stem cell research as a new hope for aniridia patients
Huiqing (Jo) Zhou
Nijmegen, the Netherlands
Molecular Developmental Biology, Faculty of Science, Radboud University, Nijmegen, The Netherlands
PhD, Professor of Stem Cell Epigenomics
Jo Huiqing Zhou obtained her PhD in Hong Kong University of Science and Technology on transcriptional regulation of oncogenes. In 2002, she joined Department of Molecular Biology at Radboud University as a postdoctoral fellow, working on basal transcription factors. Subsequently, she worked as a senior postdoctoral fellow and later an junior group leader in Department of Human Genetics at Radboud University Medical Centre on gene regulatory networks of the transcription factor p63 related disorders using patient-derived stem cell models. In 2012 she established her research group at the Department of Molecular Developmental Biology, Faculty of Science, Radboud University. Her research focuses on understanding how cells make the decisions that shape human development and disease. Combining experimental and computational (single-cell) multi-omics integrative analyses, her studies provide molecular insights into cell differentiation, normal development and disease mechanisms, and inform strategies for tissue regeneration and therapy.
She is currently the Department Head of Molecular Developmental Biology at Radboud University and has a joint appointment at Department of Human Genetics at Radboud University Medical Center.
Mapping molecular landscape of induced corneal stem cells for regeneration
Generation of corneal stem cells from human induced pluripotent stem cells, hereafter referred to as induced corneal stem cells, represents a promising strategy for cell-based therapies to repair the damaged cornea. However, current approaches remains suboptimal, as the induced corneal stem cells often consist of different cell populations that do not fully resemble corneal stem cells from the eye and the efficiency of this process is inconsistent. A deeper understanding of the mechanisms underlying this process would provide insights into improvement strategies. In this study, we mapped the molecular landscape of induced corneal stem cells. By integrating advanced experimental and computational single-cell multi-omics technologies, we identified cell populations that are on-track and off-track towards induced corneal stem cells and the key factors governing these cells. Our findings provide potential strategies to enhance induced corneal stem cell generation for future corneal cell therapies.
Meri Vattulainen
Linköping, Sweden
University of Linköping
Postdoctoral Researcher
Throughout her research career, Meri Vattulainen has focused on ocular biology and stem cells. She completed her doctoral studies at Tampere University in 2022, where she developed clinically translatable cell therapies for the treatment of limbal stem cell deficiency (LSCD). In 2024, she joined Prof. Neil Lagali’s group at Linköping University, where she applies high-resolution spatial transcriptomics to study PAX6-related aniridia and aniridia-associated stem cell deficiency.
Exploring developmental and postnatal PAX6 aniridia with spatial transcriptomics
We have conducted Visium HD spatial transcriptomic analysis on ocular tissues from embryonic (E14.5 and E18.5) and postnatal (P7 and P14) PAX6-aniridic mice. Here, we explore this novel dataset to gain a deeper understanding of the early molecular mechanisms by which PAX6 haploinsufficiency affects the development of limbal stem cells and triggers the onset of aniridia-associated keratopathy (AAK).
Dina Javidjam
Linköping, Sweden
Division of Ophthalmology, Department of Biomedical and Clinical Sciences, Linköping University
PhD
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 centred on optimisation. My passion for addressing Limbal Stem Cell Deficiency (LSCD) led me to contribute as a researcher at Charles University, the 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).
Decoding epithelial homeostasis and stem cell renewal in the Aniridia-Associated Keratopathy murine cornea by enriched high- resolution spatiotemporal single-cell transcriptomics
Given the lack of efficient therapeutic options for aniridia-associated keratopathy (AAK), and the urgent need to develop treatments that can help patients with already developed AAK, there is a critical need to extend our knowledge of the postnatal molecular mechanisms driven by PAX6 haploinsufficiency. Aniridia is caused by heterozygous loss of PAX6 and leads to progressive corneal degeneration, limbal stem cell deficiency, inflammation, and loss of vision; however, the cellular and spatial events underlying disease progression after birth remain poorly understood. In this study, we investigated age-dependent corneal remodeling in a Pax6 haploinsufficient aniridia mouse model across key postnatal stages (1 to 4 months). Using a novel integrative methodology combining single-cell RNA sequencing and spatial transcriptomics, we generated a high-resolution atlas of corneal and limbal cell populations and mapped their transcriptional changes within intact tissue architecture. This framework provides new insight into the spatiotemporal mechanisms and highlights potential molecular targets for future therapeutic strategies aimed at preserving corneal integrity in aniridia.
Dulce Lima Cunha
Nijmegen, Netherlands
Radboud University Medical Center
PhD
Dulce Lima Cunha obtained her PhD in Genetics and Genomics in 2018 from the Innsbruck Medical University (Austria). She has been working as a Postdoctoral Researcher on aniridia and human stem cell models since 2019, first in the UK in Mariya Moosajee’s group at UCL Institute of Ophthalmology, then in the Netherlands in Jo Zhou’s group at Radboud University. Since September 2025, she has led her own project on aniridia corneal organoids at Radboud University Medical Centre. Her main research interests are developing human iPSC-based models to help understanding and developing new treatments for aniridia and other ocular diseases.
Corneal organoids from aniridia patient-derived iPSC
Most aniridia patients with PAX6 mutations develop aniridia-related keratopathy (ARK), a disorder where the cornea gets progressively opaque, often leading to blindness. However, the exact molecular mechanisms behind ARK are still not clear, so developing corneal model systems that mimic the disease complexity is imperative to understand ARK and develop effective therapies to halt its progression.
We have previously generated induced pluripotent stem cells (iPSC) derived from two PAX6 aniridia patients and have now established a protocol to differentiate iPSC into 3D cornea-like structures, called corneal organoids.
Corneal organoids were shown to mimic key stages of corneal development. Single-cell analyses showed the presence of all corneal progenitor cell types – epithelial, stromal and endothelial. When comparing to control organoids, aniridia corneal organoids recapitulate known disease features, like increased inflammation and vascularisation markers. Inflammatory changes were detected at early stages, although clearer disease features emerge later.
Although preliminary, these results show that these organoids offer a promising platform to study ARK and develop future therapies. We are currently validating these results on the second aniridia patient iPSC and testing the effect of promising compounds.
16.00-17.30 Session 2: Young ophthalmologists and scientists present posters (contest)
Ekaterina Polyakova
Moscow, Russia
Federal State Budgetary Institution "Central Clinical Hospital with polyclinic". Office of the President of the Russian Federation. Interregional public organisation "Interregional Center for Support of Patients with Aniridia "Raduzhka"
Ph.D. in Medicine
Implantation of the keratoprosthesis in a child with congenital PAX6 aniridia and total corneal opacification
Introduction: Total vascularized corneal opacification in pediatric PAX6 aniridia poses the greatest challenge for surgical rehabilitation, rendering traditional penetrating keratoplasty ineffective. The keratoprosthesis, with its unique supporting skirt and two-stage implantation technique, may provide stability in the setting of severe limbal stem cell deficiency.
Purpose: To evaluate the efficacy and safety of the two-stage keratoprosthesis implantation in a pediatric patient with end-stage aniridia-associated keratopathy.
Materials and Methods: An 8-year-old male with genetically confirmed PAX6 mutation, light perception with inaccurate projection, and a total vascularized leucoma underwent surgery. The first stage involved implantation of the supporting (corneoscleral) part of the keratoprosthesis, covered with a thin, semi-transparent corneal flap. Six months later, the second stage included optical trephination and insertion of the optical cylinder. Intraoperative subconjunctival bevacizumab injection was administered during both stages.
Results: The postoperative course was uneventful, with no signs of extrusion, infection, or retroprosthetic membrane formation. Full biological integration of the supporting skirt was achieved. Stable refraction was attained after the second stage. At the 6-month follow-up, best-corrected visual acuity was 0.12 (20/160), enabling the child to commence ophthalmic and pedagogical rehabilitation. Quality of life improved significantly. Conclusion: The two-stage implantation technique of the Fedorov-Zuev keratoprosthesis combined with adjuvant anti-angiogenic therapy proved highly effective and safe in this complex pediatric aniridia case. This approach facilitates excellent biological integration and provides a stable visual outcome, offering a viable alternative for patients at high risk of traditional graft rejection.
Keywords: Congenital Aniridia, PAX6, Keratoprosthesis, Two-Stage Implantation, Pediatric Ophthalmosurgery, Corneal Opacification
Elsa Berg
Nijmegen, the Netherlands
Radboud UMC
Technician
Gene expression analysis of limbal epithelial cells from PAX6- aniridia patients
Aniridia is caused by mutations in the PAX6 gene, which regulates the expression of downstream target genes essential for the development and health of the eye. There are > 500 different PAX6 mutations, mostly leading to degradation of the mutated allele which results in lower levels of PAX6 protein. In limbal epithelial cells (LECs) in the cornea, PAX6 deficiency leads to an inability of LECs to replenish the corneal epithelium, leading to aniridia-associated keratopathy (AAK). As the exact transcriptional effects of PAX6 mutations on LECs remain unknown, investigating these changes is vital to better understand the mechanisms underlying LEC dysfunction.
We have performed gene expression analysis through bulk RNA sequencing on LECs extracted from 7 unaffected individuals and 7 patients with congenital aniridia with different PAX6 mutations and AAK severity. Results revealed an increase of 365 genes and a decrease of 589 genes in aniridia LECs compared to control LECs. Among the downregulated genes was PAX6 itself, along with several known corneal epithelial markers, like KRT12, KRT3 and MUC22. Overall, the downregulated genes belong to processes like cell differentiation and epithelial development, while upregulated genes linked to cell proliferation and vascularisation. Further analyses are currently ongoing.
These initial results suggest a promising expansion of our understanding of the transcriptional effects of PAX6 mutations in LECs, to uncover new pathways or target genes with the potential to advance therapy development for AAK.
Keywords: congenital aniridia, PAX6, limbal epithelial cells (LECs), bulk RNA sequencing, transcriptome analysis
Acknowledgements:
We acknowledge that this work is in collaboration and financially supported by Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg/Saar, Germany, and that it is contributed to by all of the following: Dulce Lima Cunha1, Tanja Stachon2, 3, Marijke Baltissen1, Berthold Seitz 4, Fabian Norbert Fries2, 4, Maryam Amini 2, Shweta Suiwal2, 3, Huiqing Zhou1,5*, Nóra Szentmáry2, 3*
1 Department of Human Genetics, Radboud UMC, Nijmegen, Netherlands
2 Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg/Saar, Germany
3 Department of Experimental Ophthalmology, Homburg/Saar, Germany
4 Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany
5 Department of Molecular Developmental Biology, Radboud University, Nijmegen, Netherlands
Israa Sefawi
Linköping, Sweden
Linköping University, Sweden
Research Assistant (MSc)
Crystallins Beyond the Eye: A Potential PAX6-Dependent Mechanism Underlying Visual and Auditory Deficits in Aniridia
Aniridia, caused by PAX6 haploinsufficiency, affects multiple sensory systems, yet no unifying molecular mechanism has been identified to explain its concurrent visual and auditory deficits. Crystallins, classical lens proteins directly regulated by PAX6, are increasingly recognized for broader roles in cellular stress responses, neuroprotection, and sensory system development. Their involvement in corneal homeostasis and auditory brainstem maturation positions them as strong candidates for a shared PAX6-dependent pathway disrupted in aniridia.
This project investigates whether PAX6 haploinsufficiency alters crystallin expression and function across corneal, cochlear, and auditory brainstem tissues, contributing to dual sensory impairment. Using the Pax6+/− (Sey) mouse model, auditory brainstem responses (ABRs) are recorded alongside fluorescence immunostaining for Alpha A crystallin (CRYAA), Alpha B crystallin (CRYAB), Beta B2 crystallin (CRYBB2), Gamma C crystallin (CRYGC), PAX6, and neural markers in cornea, cochlea, and auditory nuclei. Initial ABR recordings and immunostaining have been completed, and early analyses are underway to define emerging patterns across sensory tissues. These preliminary data will be presented to illustrate developing disruptions within sensory pathways. Future work will expand group sizes and incorporate expression validation and pathway-level analyses to define conserved molecular mechanisms.
Understanding convergent PAX6-dependent disruptions across sensory systems may help explain the clinical variability of aniridia and clarify whether corneal transparency defects and auditory processing abnormalities arise from a shared molecular pathway.
Keywords: PAX6; crystallins; aniridia; sensory development; corneal homeostasis; cochlear maturation; auditory brainstem; ABR; haploinsufficiency; Pax6+/− mouse model
Marfuga Oteuliyeva
Almaty, Kazakhstan
Euretina
PhD-student, Kazakh Research Institute of Eye Diseases, Almaty, Kazakhstan
Congenital Aniridia: Organisational Models of Care and Quality of Life Outcomes
Keywords: congenital aniridia, multidisciplinary care, quality of life, rare disease centers, patient advocacy
Background:
Congenital aniridia is a rare, lifelong disorder affecting 1 in 40,000–100,000 individuals, associated with severe ocular and systemic complications including WAGR syndrome. Patients face lifelong visual impairment, fragmented care, and reduced quality of life (QoL).
Aim:
To evaluate organizational care models, patient management strategies, and QoL outcomes in congenital aniridia from a public health perspective.
Methods:
A scoping review of PubMed, Scopus, and Google Scholar (2015–2025) was conducted following Arksey & O’Malley and JBI methodology. Fourteen studies were included, focusing on organizational models, patient management, and QoL metrics.
Results:
Integrated, multidisciplinary, and center-based care models were found essential. Rare disease centers improve surveillance, coordination, and rehabilitation. International collaboration and telemedicine enhance access to expertise. Patient advocacy organizations provide navigation, psychosocial support, and family-centered care. Gaps in referral systems and preventive screening for glaucoma and WAGR syndrome highlight the need for structured pathways. Surgical interventions, such as artificial iris and BDI lens implantation, improve visual outcomes, photophobia, and overall QoL.
Conclusions:
Effective aniridia care requires a shift from isolated clinical treatment to integrated, public health–oriented frameworks. Lifelong, patient-centered, multidisciplinary care, supported by registries, centers of excellence, and digital tools, is critical to improving clinical outcomes, QoL, and caregiver support.
Doroteya Yordanova
Varna, Bulgaria
MU "Prof. Dr. Paraskev Stoyanov", Varna
Student, Medicine
Congenital Aniridia In A One-Year-Old Child: Clinical Findings And Molecular Confirmation
Introduction: Congenital aniridia (ORPHA:250923) is a rare panocular disorder characterised by partial or near-complete absence of iris tissue and involvement of multiple ocular structures. Most cases are isolated and caused by heterozygous loss-of-function variants in PAX6 (11p13) with autosomal-dominant inheritance and variable expressivity, however syndromic forms such as WAGR and Gillespie syndrome also occur. Differentiation is essential for appropriate screening and management.
Aim: To describe a genetically confirmed case of PAX6-related congenital aniridia in a one-year-old child and to underline the role of molecular diagnosis in counselling and planning long-term ophthalmic surveillance.
Clinical case: A one-year-old girl, born from a second complicated pregnancy, was initially followed due to retinopathy of prematurity. Subsequent comprehensive ophthalmologic assessment identified bilateral congenital aniridia with peripheral rudimentary iris tissue and bilateral anterior polar cataracts. At the time of evaluation, no systemic findings suggestive of syndromic aniridia were observed. The family history revealed severe paternal visual impairment: the father had end-stage ocular disease with functional blindness; paternal grandparents had undocumented visual disorders. The mother had unilateral congenital cataract, vitreous degeneration, sensory nystagmus, and contralateral enucleation in infancy. The older sibling was unaffected.
Molecular genetic analysis: Next-generation sequencing (NGS) was performed in the proband, followed by targeted Sanger sequencing in both parents. An identical heterozygous pathogenic variant, c.771G>A, p.(Trp257Ter), in the PAX6 gene was identified in the patient and her father, while no pathogenic variant was detected in the mother, consistent with autosomal dominant inheritance.
Conclusion: The integrated clinical and molecular findings confirm the diagnosis of isolated congenital aniridia, enabling accurate genetic counselling and supporting individualised long-term ophthalmic follow-up to monitor progressive ocular complications.
Keywords: congenital aniridia, PAX6, NGS, ORPHA:250923
Rosa Sánchez de Vega
Madrid, Spain
Spanish Aniridia Association
President
Experience in Patients´Organisations:
1996: founder of the Spanish Aniridia Association and President (1996-2008).
1999: co-founder of the Spanish Alliance for Rare Diseases (FEDER) and Vice-President (1999-2006), becoming President (2006-2010)
2003: member of EURORDIS Board of Directors and Vice President (2006-2011)
2011: co-founder of Aniridia Europe, President (2011-2014 and 2016-2018).
2015. EURORDIS Volunteer Award.
2012. Member of the EURORDIS Council of National Alliances CNA (until 2014) and member of the Council of European Federations CEF to 2020
2021-2023. Member of the EPAG (European Patients Advocacy Group) of the European Reference Network of Rare Eye Disorder ERN-EYE
2024-2026 Currently serving as President of the Spanish Aniridia Association
You can take the picture from the website. I am older than the picture, but I do not have any other.
https://aniridia.es/equipo
Introduction of Prof.Barbara Käsmann-Kellner Award by Rosa Sanches de Vega. Announcement of the recipient.
17.30-18.30 Session 3: Facilitating the Quality of Life – Multilevel Perspective
Huban Atilla
Ankara, Turkey
Ankara University, Faculty of Medicine Department of Ophthalmology
MD, FEBO, Professor of Ophtalmology
CURRENT POSITION
Head of Ophthalmology Department, Ankara University, Faculty of Medicine, Department of Ophthalmology,
Director of Pediatric Ophthalmology & Strabismus and Neuro-ophthalmology sections at Ankara University, Faculty of Medicine,
Past President of Turkish Ophthalmological Society – 2023- 2025
EDUCATION
-1983-1989: School of Medicine, Hacettepe University Faculty of Medicine (English), Ankara
-1989 – 1994: Residency, Ankara University Faculty of Medicine Department of Ophthalmology, Ankara, Turkey
-2002-2008: Associate Professor, Ankara University Faculty of Medicine, Department of Ophthalmology
-2008- : Professor, Ankara University Faculty of Medicine, Department of Ophthalmology
-2021- : Head of Ophthalmology Department, Ankara University, Faculty of Medicine, Department of Ophthalmology
RESEARCH AND FOREIGN TRAINING
-1992-1993 Washington University School of Medicine Pediatric Ophthalmology and Strabismus (St. Louis, MO, USA)
GENERAL INTEREST, FUNCTIONS, EXPERTISE SOCIETIES
-Executive Board Member of European Board of Ophthalmology (EBO) -2022
-Program Chair of Neuro-ophthalmology, Pediatric Ophthalmology, Strabismus and History (NSPH) Section of EVER -2005
-Board member of International Ophthalmic Foundation – 2025-
-Past President of Turkish Ophthalmological Association – 2023-2025
-Past President of Strabismus Section of Turkish Ophthalmological Association 2020-2022
-Member of Turkish Ophthalmological Society Strabismus and Neuroophthalmology Subspecialty groups
-Member of American Academy of Ophthalmology
-Member of American Pediatric Ophthalmology and Strabismus Association
-Member of European Strabismological Association
-Member of European Pediatric Ophthalmology Society
-Section editor of Pediatric Ophthalmology in International Ophthalmology
-Editorial Board member of Strabismus Journal
AWARDS
-2019: American Academy of Ophthalmology Achievement Award
– 2021: Best poster 2nd award in 55th National Congress of Turkish Ophthalmological Association (Prevalance of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey)
-2025 Best poster 3rd award in 59th National Congress of Turkish Ophthalmological Association (Macular and peripapillary microvascular characteristics in NAION patients)
Author of over 80 articles, about 10 book chapters
Research area is strabismus, low vision, albinism, ophthalmic imaging.
Unmet needs of aniridia patients in everyday clinical practice
Aniridia is rare disease (1 in 40,000$ to 100,000) and most ophthalmologists see only one or two cases throughout their career. This rarity results in many unmet needs for the patients and the families. In clinical practice, aniridia is often treated as a series of isolated ocular complications (like glaucoma or cataracts). However, for patients, the “unmet needs” often lie in the gaps between these treatments—specifically the lack of holistic care, the absence of standardized protocols, and the profound social-emotional burden that clinical measurements often overlook. Focusing on ophthalmological symptoms and findings may result in missing systemic diseases such as neurological problems or subtle hearing deficits, metabolic diseases such as early onset diabetes or obesity
Daniel Egido
Madrid, Spain
Aniridia Spain
Secretary
Affected by congenital Aniridia and the current secretary of the Aniridia Spanish Association.
Industrial engineer and civil servant in Spanish State Administration. Currently developing a position as Head of Area of Transparency and Personal Data Protection in Ministry of Foreign Affairs. Interested in science and technology, History, creative writing and sport.
Facilitating the Quality of Life – The patient perspective
The presentation tries to show some details from the patient perspective to help ophthalmologists to understand what is the real and practical vision of each person affected by Aniridia. It maybe also help doctors to approach better the relation with patients, that is, for example, the conversation during the medical visit, the choice of treatment, etc.
Sabrina Vaccaro
Catanzaro, Italy
Department of Ophthalmology, University Magna Graecia of Catanzaro
Medical doctor
Dr Sabrina Vaccaro is an Ophthalmologist currently practising at ASST Spedali Civili di Brescia, Italy. She graduated in Medicine and completed her residency in Ophthalmology with the highest honours. She later pursued further training in Clinical Research and Biostatistics and broadened her international clinical exposure as an Observer Corneal Fellow at the Royal Liverpool University Hospital, UK. Her research activity has resulted in numerous peer-reviewed publications, with a particular focus on corneal diseases. In addition, she is actively involved as a study coordinator and investigator in international clinical trials.
Facilitating the Quality of Life – The Multilevel Perspective
Katherine Atkinson
Sheffield, United Kingdom
Aniridia Network
Chair of Trustees
Katie is a trustee of Aniridia Network and has taken an active role in the running of the UK aniridia association since its founding 25 years ago. She has also been a member of the board of Aniridia Europe since its founding in 2011. She has sporadic aniridia herself and has experienced a deterioration in her vision during her adult life. After studying physics at university and going on to obtain her PhD, Katie now works for a multinational software company, providing expert customer support for users of engineering simulation software.
Facilitating the Quality of Life – The patient perspective
James Buller
London, United Kingdom
Aniridia Network
Trustee
James has been building the aniridia community since creating the first website by a patient in 1998. He has served as a trustee of Aniridia Network in the UK since 2009 and led the team that established Aniridia Day.
James has sporadic aniridia. He take dry-eye drops and often uses magnification and a monocular. For a while, before 2 cataract operations restored his deteriorating vision, he briefly used a white cane.
Since university, his 25-year career has been in IT and communications. He is now a civil servant making websites accessible and has been involved with several UK voluntary/charity sector organisations.
Facilitating the Quality of Life – The patient perspective
Saturday, 18 April 2026
08.30-10.00 Session 4: The new perspectives in treatment of Glaucoma
Christina Grupcheva
Sofia, Bulgaria
Bulgarian Academy of Science, UMBAL Medica-Russe, Grupchevi PLUS-Varna
MD, PhD, FEBO, FICO, FIACLE, FBCLA
The role of lasers
Background: Aniridia is often complicated by secondary glaucoma, which is frequently refractory to standard medical management. Latest tendency to use Selective Laser Trabeculoplasty (SLT) as a first line treatment in aniridia patients remains poorly established.There are limited data about Argon Laser Trabeculoplasty (ALT).
The Challenges: Secondary glaucoma in aniridial typically results from progressive anatomical changes in the drainage angle, where a rudimentary iris stump rotates to cover the trabecular meshwork (TM). While ALT is designed to increase aqueous outflow through the TM, it is generally considered ineffective in aniridic eyes with open angles and clinically contraindicated in cases of synechial closure or significant angle distortion. Furthermore, the lack of iris tissue and potential for co-existing corneal opacities can limit the gonioscopic visualization necessary for precise laser application.
Clinical Evidence: Literature regarding laser trabeculoplasty in aniridia is sparse. The newest technology on the horizon is ELIOS – excimer laser intraocular system. The results for patients with open angle primary and secondary glaucoma are very promising. This technology has a potential for patients with aniridia.
Conclusion: Laser trabeculoplasty plays a negligible role in the management of aniridic glaucoma, however emerging laser technologies are bringing hope and perspective.
Dominique Bremond-Gignac
Paris, France
University Hospital Necker Enfants malades
Professor
Dominique BREMOND-GIGNAC, MD, PhD, FEBO, is Professor of Ophthalmology, Head of Ophthalmology Department with pediatric ophthalmology subspecialties at University Hospital Necker-Enfants malades and Paris Cité University in Paris. Head of Paris Orthoptic Department, affiliated to INSERM UMRS 1138, Team 17 Research Unit, in innovation therapy. Her activity is distributed in clinical practice, teaching and research. Current practice mainly in children, includes rare eye diseases as well in congenital aniridia. Chair of Aniridia Europe and of Geniris French Association. She contributed over two hundred and fifty peer review publications in the ophthalmic literature and more than fifty books or books chapters. In april 2019 she received for a lecture Al Biglan Medal Distinction from Pittsburgh University (UPMC). Involved in visual health in children she is Executive member of WSPOS (World Strabismus and Pediatric Ophthalmology Society) and President Elect 2021 of EVER (European Association for Vision and Eye Research). Decorated by French Ministry of “Ordre de la Legion d’Honneur” and “Ordre des Palmes Académiques”. President of EuMyS European Myopia Society. Head of CLAIROP Research Clinical Center accredited by Europe EVI-CR and Head of OPHTARA Rare Eye Diseases Center accredited by French Health Ministry and ERN EYE (Europe).
PAX6-related glaucoma. Anti-glaucoma medication and MIGS Preserflo
Dominique Brémond-Gignac a,b, Alejandra Daruich a,b, Matthieu P. Robert a, Sophie Valleix c,d
a Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France
b INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Paris University, Centre de Recherche des Cordeliers, Paris, France
c Service de Médecine Génomique des Maladies de Système et d’Organe APHP. Centre Université de Paris, Fédération de Génétique et de Médecine Génomique, Paris Cité Université, Hôpital Cochin, Paris, France
d Laboratoire de Biologie Médicale SeqOIA, Paris, France
Congenital aniridia due to a PAX6 gene expression anomaly is a rare and disabling panocular genetic disease. The disease presents common complications as other ocular abnormalities, including cataract, Aniridia Associated Keratopathy, ocular hypertonia and commonly glaucoma. Glaucoma is a multifactorial complication of congenital aniridia, affecting almost 50% of patients, with roughly estimated incidence ranging from 46 to 70%.
This PAX6-related glaucoma may present as a congenital glaucoma or as a progressive juvenile glaucoma. We will provide which antiglaucoma medication is of interest in PAX6 congenital aniridia including how matters the preservative-free eyedrop. New glaucoma class Rho Kinase (ROCK) inhibitors are under more evaluation for congenital aniridia with glaucoma.
In our single-center cohort study we included 296 eyes (4 enucleations) from 150 patients. According to our definition of glaucoma, 77 (51.3%) patients were glaucomatous, corresponding to 139 glaucomatous eyes (46.7%). The age of onset of glaucoma in our study was 15.7 +/- 13.6 years. Congenital glaucoma accounted for 21.6% of all glaucomas. Glaucoma was bilateral in 62 patients. More than a third of patients had undergone glaucoma surgery, trabeculectomy first followed by laser diode therapy or glaucoma valve. Furthermore, glaucoma severity was not correlated with degrees of limbal insufficiency, foveolar hypoplasia and iris hypoplasia. New devices as mini-glaucoma valves devices like Preserflo show interesting results to preserve the low-level of visual acuity after filtering surgery.
Glaucoma Aniridia Related presents a high incidence in Congenital Aniridia and demonstrates of a severe prognosis glaucoma
Peter A. Netland
Norfolk, Virginia, USA
Department of Ophthalmology Eastern Virginia Medical School (EVMS) Norfolk, Virginia, Aniridia North America (ANA)
MD, PhD, Professor and Chair
Dr Netland received his undergraduate degree from Princeton University, his PhD from Harvard University, and his medical degree from the University of California, San Francisco. He completed his residency in Ophthalmology, followed by a clinical fellowship in glaucoma, at the Massachusetts Eye and Ear Infirmary. He was faculty at the Massachusetts Eye and Ear Infirmary, Harvard Medical School, and subsequently joined the faculty at the University of Tennessee School of Medicine in Memphis, where he was the Siegal Professor of Ophthalmology and Vice-Chair. Dr. Netland was appointed Professor and Chair of the Department of Ophthalmology at the University of Virginia (UVA), the DuPont Guerry III Professor, and the Vernah Scott Moyston Professor. He was appointed Professor and Chair of the Department of Ophthalmology at Eastern Virginia Medical School (EVMS) in 2024. Dr. Netland is an innovative and prolific investigator, with over 300 peer-reviewed publications and six textbooks. He has delivered numerous named and invited lectures about glaucoma. The American Academy of Ophthalmology awarded him the Achievement Award, the Senior Achievement Award, the Life Achievement Honor Award, and the Life Fellow award. He has received the Ben Goldfeller Award from the American Board of Ophthalmology, and other awards. He is currently serving on the Board of Directors for the EVMS Medical Group, the Board of Directors for AGS and the AGS Foundation, the Board of Directors for the Medical Society of Virginia, and other non-profit Boards. He is currently President of the Chandler Grant Glaucoma Society. Dr. Netland was elected to the American Ophthalmological Society in 2009 and currently serves on the AOS Council. He is chairperson of Aniridia North America (ANA).
MIGS Xen and When nothing helps…
Some individuals with aniridia do not respond to medical therapy or primary (initial) surgery for glaucoma. Glaucoma drainage implants are useful for secondary surgery, with high success rates and reasonable level of risk for complications. In a recent study, surgical success was 95% at 7 years follow-up following Ahmed Glaucoma Valve implantation (Ahmed AA and Netland PA, Clin Ophthalmol, 2025). Cyclodestructive procedures are useful for adjunctive therapy if needed after glaucoma drainage implant surgery. Alternative surgical treatments, such as choroidal shunts, may provide an alternative to control IOP in intractable cases.
10.30-12.00 Session 5: The new perspectives in treatment of Dry eye
Christina Grupcheva
Sofia, Bulgaria
Bulgarian Academy of Science, UMBAL Medica-Russe, Grupchevi PLUS-Varna
MD, PhD, FEBO, FICO, FIACLE, FBCLA
Inflammation matters
Parainflammation plays a critical role in the pathogenesis of dry eye disease (DED) in patients with aniridia, bridging the chronic ocular stress and the development of severe, chronic inflammation (Aniridia-Associated Keratopathy or AAK). Furthermore, the reduction of PAX6 gene function initiates a cascade where the ocular surface loses its ability to maintain homeostasis, shifting to severe inflammatory processes.
Parainflammation is characterized as a “protective phenomenon” but in case of persistency, becomes harmful. In aniridia, this is triggered by chronic ocular surface stress, including meibomian gland dysfunction (MGD), tear film instability (specifically, high evaporation rates), and limbal stem cell deficiency. Studies show a direct correlation between dry eye severity (measured by tear breakup time, TBUT) and increased levels of inflammatory cytokines (IL-1β, IL-17A, FGF2, and MIP-1α) in the tear fluid of aniridia patients. Parainflammation is heavily implicated in the high prevalence of meibomian gland dysfunction (MGD) in aniridia patients, contributing to evaporative dry eye and furthering the damage to the corneal epithelium.Similar to other chronic DED cases, it is hypothesized that the reduced ability to synthesize cortisol in the corneal epithelium in aniridia weakens the regulatory mechanisms that keep the immune system in check, promoting the progression toward chronic inflammation.
Understanding this dysfunctional parainflammatory process is crucial for treating aniridia, as early intervention to reduce this inflammation before it develops into full-blown chronic, scarred keratinization. Treatments sucsh as Plasma Rich in Growth Factor (PRGF), weaker topical steroids, immunomodulators and other novel molecules can improve ocular surface stability and relieve symptoms of dryness.
Maria Del Carmen Acosta
Sant Joan d'Alacant, Spain
Instituto de Neurociencias
Professor
Since the beginning of my scientific career, my research has focused on the activity of sensory innervation, specifically concerning transduction mechanisms, reflex initiation, trophism, and evoked sensations in humans, primarily within the ocular surface. During my predoctoral and postdoctoral training, I worked at specialized research centers dedicated to sensory transduction, including the Prince of Wales Medical Research Institute at the University of New South Wales (Sydney, Australia) with Dr. Elspeth McLachlan and Dr. James Brock; and the Department of Experimental Physiology and Pathophysiology at the University of Erlangen-Nuremberg (Germany) with Drs. H.O. Handwerker, M. Schmelz, and Karl Messlinger. I specialise in electrophysiological recordings of sensory nerve endings and axons, animal behavioural experiments, and human psychophysics.
My most significant scientific contributions include:
– First-time description of how different types of ocular surface sensory receptors contribute to evoked sensations in humans and their correlation with corneal sensory innervation activity.
– Characterisation of the role of ocular sensory innervation in controlling reflex tearing, basal tearing blink frequency, and vascular reflexes.
– Analysis of age-related changes in sensory innervation and ocular surface sensitivity, as well as alterations in various pathologies, including amyloidosis, diabetes, fibromyalgia, ocular herpes, dry eye disease, allergic keratoconjunctivitis, photokeratitis and aniridia.
– Study of nerve injury and regeneration, specifically regarding refractive surgery, other corneal injuries, and the impact of contact lens wear.
– Evaluation of pharmacological effects on ocular surface innervation and sensitivity through various drug studies.
My current scientific interests remain focused on how ocular surface sensory innervation is modified by dryness, inflammation, and contact lens wear. I am investigating these changes not only through electrical nerve activity but also by exploring the molecular and ionic mechanisms (such as TRP channels, Na+, and K+ pumps) that modulate this activity. Furthermore, my research group aims to map the sensory pathway of the ocular surface at the level of the thalamus and somatosensory cortex—an area that remains understudied—while detailing the role of sensory innervation in blink and tear control mechanisms, which are frequently compromised in ocular pathologies. To achieve this, we employ a multidisciplinary approach combining pharmacological tools, psychophysical studies, and advanced electrophysiological recording techniques.
Current Understanding of Corneal Sensory Nerve Functionality in Aniridia
Corneal sensory nerves (mechano- and polymodal nociceptors and cold thermoreceptors) not only mediate sensations evoked in response to stimulation, but also play trophic roles and contribute to protective mechanisms of the ocular surface, such as the regulation of tearing and blinking.
While congenital aniridia is primarily defined by partial of near-complete absence of the iris, its impact on the corneal sensory functionality remains poorly understood. We performed a study to provide the first functional characterization of the different types of corneal sensory nerves in patients with PAX6-related aniridia. By evaluating a cohort of pediatric and adult patients, we assessed mechanical and cold sensitivity—using non-contact esthesiometry and thermal stimuli—alongside blinking and tearing.
Our findings reveal a significant impairment of corneal nerve function. Mechanical and cold sensitivity were markedly reduced, particularly in adult patients, those with advanced aniridia-associated keratopathy, and individuals carrying loss-of-function mutations. Notably, while basal tearing and blinking remained stable, reflex tearing was reduced. These results suggest a progressive failure of mechano- and polymodal nociceptors and thermoreceptors that correlates with disease severity and age. Ultimately, this work highlights the critical role of the PAX6 gene in maintaining corneal sensory integrity and suggests that sensory monitoring should be a key component in the long-term management of aniridia patients.
Nora Szentmary
Homburg, Germany
Department of Experimental Ophthalmology, Homburg/Saar, Germany and Department of Ophthalmology, Semmelweis University, Budapest, Hungary
Professor
Prof. Szentmáry was born in Budapest and studied medicine at Semmelweis University, where she qualified as an ophthalmologist and earned her Ph.D. in 2005. From 2008 to 2010, supported by an Alexander von Humboldt Fellowship, she continued her research at the Universities of Erlangen-Nuremberg and Saarland in Germany. She completed her habilitation at the Saarland University Medical Faculty in 2012. Her clinical and scientific work focuses primarily on corneal, ocular surface, and anterior segment diseases. She has authored 11 book chapters and 310 scientific publications to date and has successfully supervised 10 Ph.D. theses. Fifty of her publications address clinical or basic research on congenital aniridia. Since June 2020, she has been working as head of the Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research in Homburg/Saar. She has also been Head of the Cornea and Ocular Surface Section of the European Association for Vision and Eye Research (EVER) between 2017-2022. Between 2022-2023 she was President of the EVER, and she received the title EVER Felow and honorary life member of EVER in 2023. She is editor of Journal of Ophthalmology, Biomolecules, Acta Ophthalmologica Scandinavica, Ophthalmology and Therapy and Current Eye Research. Professor Szentmáry speaks English, German, French and Spanish beside her mother tongue.
All is a vitious circle
Aniridia-associated keratopathy (AAK) is a progressive disease driven by PAX6 haploinsufficiency and sustained by a self-perpetuating vicious circle. Limbal epithelial stem cell dysfunction results in impaired epithelial renewal, chronic inflammation, and abnormal wound healing. Molecular studies, including RNA- and miRNA profiling, reveal dysregulation of proliferation pathways, inflammatory signaling, hypoxia response, and altered expression of miR-204-5p and miR-138-5p. Limbal fibroblasts exhibit enhanced inflammatory responses and increased susceptibility to oxidative stress, further destabilizing the epithelial niche. These epithelial–stromal interactions promote neovascularization, stem cell exhaustion, and progressive tissue damage, ultimately impairing visual function. Understanding this interconnected pathomechanism may enable targeted strategies to interrupt the vicious circle and restore ocular surface stability.
Christina Grupcheva
Sofia, Bulgaria
Bulgarian Academy of Science, UMBAL Medica-Russe, Grupchevi PLUS-Varna
MD, PhD, FEBO, FICO, FIACLE, FBCLA
The long way to success treating ocular surface and glaucoma (in collaboration with SANTEN)
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12.30-13.00 Keynote lecture
Neil Lagali
Linköping, Sweden
Linköping University
Professor
Progress on aniridia research and therapies for aniridia-associated keratopathy
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13.30-14.00 Keynote lecture of the BSO “Genetic testing and consultations as а standard of care for people with rare eye disease“ - Dr Petia Stratieva
Petia Stratieva
Sofia, Bulgaria
Retina Bulgaria
Chair
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Genetic testing and consultations as а standard of care for people with rare eye disease
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14.00-15.30 Session 6: Facilitating the Quality of Life – the Multilevel Perspective
Sabrina Vaccaro
Catanzaro, Italy
Magna Graecia University
Doctor
Dr Sabrina Vaccaro is an Ophthalmologist currently practising at ASST Spedali Civili di Brescia, Italy. She graduated in Medicine and completed her residency in Ophthalmology with the highest honours. She later pursued further training in Clinical Research and Biostatistics and broadened her international clinical exposure as an Observer Corneal Fellow at the Royal Liverpool University Hospital, UK. Her research activity has resulted in numerous peer-reviewed publications, with a particular focus on corneal diseases. In addition, she is actively involved as a study coordinator and investigator in international clinical trials.
How to assess quality of life – European perspective
This lecture will present a European perspective on quality-of-life assessment in congenital aniridia, based on the work of the ANIRIDIA-NET Clinical Guidelines Working Group, in collaboration with Aniridia Europe and the Geniris Working Group. The content is grounded in a review of existing European national guidelines and scientific literature, performed using a PICO-based methodology. Quality-of-life assessment in aniridia should extend beyond visual acuity and include photophobia, ocular discomfort, visual disability, rehabilitation needs, and the impact of the disease on learning, independence, work, and social participation. A multidisciplinary, patient-centred approach and the use of standardised patient-reported outcome measures are essential to identify unmet needs and improve long-term care.
Peter A. Netland
Norfolk, Virginia, USA
Department of Ophthalmology Eastern Virginia Medical School (EVMS) Norfolk, Virginia, Aniridia North America (ANA)
MD, PhD, Professor and Chair
How to assess quality of life – US perspective
The pan-ocular and systemic manifestations of aniridia may affect quality of life (QoL). Ophthalmology vision-related QoL (VRQoL) scores are primarily driven by visual acuity, visual field, and functional limitations in daily activities like driving and reading. Other factors include psychological factors (depression, fear of blindness), ocular pain, and dependency on others. Individuals with aniridia often have decreased vision, which can progressively worsen. QoL is commonly assessed using patient-reported outcome measures (PROMs) in validated measurement tools. Studies of individuals affected with aniridia have reported reduced QoL assessment scores.
Yoshinore Oie
Suita, Japan
The University of Osaka
Associate Professor
How to assess quality of life – Asian perspective
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Katherine Atkinson
Sheffield, United Kingdom
Aniridia Network
Chair of Trustees
Katie is a trustee of Aniridia Network and has taken an active role in the running of the UK aniridia association since its founding 25 years ago. She has also been a member of the board of Aniridia Europe since its founding in 2011. She has sporadic aniridia herself and has experienced a deterioration in her vision during her adult life. After studying physics at university and going on to obtain her PhD, Katie now works for a multinational software company, providing expert customer support for users of engineering simulation software.
How to achieve quality of life – Patient’s perspective
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16.00-17.30 Session 7: The Retina and Beyond
Alejandra Daruich
Paris, France
Department of Ophthalmology, Necker–Enfants Malades University Hospital, Université Paris Cité
Professor
Alejandra Daruich, MD, PhD, is a Full Professor in the Department of Ophthalmology at Necker–Enfants Malades University Hospital and Université Paris Cité in Paris. She specializes in pediatric vitreoretinal surgery, with a focus on retinal diseases in children. Her clinical and research interests center on pediatric retinal disorders and the development of innovative therapies for retinal diseases. She is Co-Director of Continuing Medical Education at the Faculty of Medicine, Université Paris Cité. She is also a co-founding President of the French Society of Pediatric Retina.
Retinal Involvement in Congenital Aniridia
Alejandra Daruich, MD, PhD ; Dominique Bremond-Gignac, MD, PhD,
Department of Ophthalmology, Necker–Enfants Malades University Hospital, Université Paris Cité INSERM U1138, Cordeliers Research Center, Team 17
Congenital aniridia (MIM_106210) is a rare panocular malformation characterized by hypoplasia or complete absence of the iris, most commonly caused by loss-of-function variants in the PAX6 gene. Recent studies have shown that foveal hypoplasia is more frequently observed than complete absence of the iris. Foveal hypoplasia therefore represents the most consistent clinical sign of congenital aniridia.
1. Foveal hypoplasia
Foveal hypoplasia is defined by the persistence of the inner retinal layers at the foveal region, associated with a reduced or absent foveal avascular zone (FAZ). According to the classification proposed by Thomas et al., it is graded into four levels of increasing severity, reflecting variable degrees of underdevelopment of the foveal pit. Because foveal hypoplasia is the most reliable sign for the diagnosis of congenital aniridia, early spectral-domain optical coherence tomography (SD-OCT) is recommended, particularly in cases with mild iris abnormalities or asymmetric features.
In patients with congenital aniridia, foveal hypoplasia shows marked variability in severity, which accounts for the presence of nystagmus in these patients. The degree of foveal hypoplasia is generally correlated with the severity of iris abnormalities. However, it has been reported that approximately 70% of patients harboring PAX6 mutations with minimal iris anomalies exhibit severe foveal hypoplasia. Foveal hypoplasia is symmetrical in most patients, with only a few cases showing different grades of foveal developmental arrest between eyes. Variability in iris and/or foveal hypoplasia has also been observed among members of the same family .
Approximately 70% of patients diagnosed with congenital aniridia present with severe foveal hypoplasia (grade 3 or 4), suggesting that the arrest of foveal development likely occurs during the centripetal migration of cones from the peripheral retina toward the fovea. This is consistent with the major role of PAX6 in the very early events of foveal morphogenesis. The degree of foveal hypoplasia is generally correlated with best-corrected visual acuity and represents a key determinant of visual function in patients with congenital aniridia. The thickness of the outer retinal layers at the fovea progressively decreases with increasing severity of foveal hypoplasia. Outer retinal layer thickness has been shown to be the strongest predictor of good visual acuity in congenital aniridia.
Individuals with aniridia also demonstrate a reduced cone density in the central fovea compared with healthy controls, as assessed by adaptive optics imaging. In addition, absence of the foveal avascular zone has been demonstrated, with increased vascular density in the foveolar region and decreased density in parafoveal areas, particularly in cases of severe foveal hypoplasia. This finding is consistent with the concept that the absence of retinal blood vessels is essential for the development of the foveal pit.
Loss-of-function mutations of the PAX6 gene, such as premature nonsense mutations, frameshift mutations, and complete or partial deletions of coding sequences, have been associated with more severe foveal hypoplasia than mutations affecting the 3′ regulatory regions of PAX6 without removing its coding sequences. Missense variants show a variable degree of foveal hypoplasia but may also be associated with grade 3 or 4 hypoplasia. Notably, foveal hypoplasia is rarely observed in Gillespie syndrome.
2. Optic disc hypoplasia and other optic nerve anomalies
Mutations in the PAX6 gene have been associated with several optic nerve malformations. The most frequently encountered is optic disc hypoplasia, observed in approximately 10% of patients with congenital aniridia. A significantly reduced optic disc size in patients with congenital aniridia compared with controls has recently been reported, based on quantitative analysis of the disc diameter (DD) to disc–fovea distance (DF) ratio. Moreover, a significant negative correlation was found between the DD/DF ratio and the degree of foveal hypoplasia, as well as between the severity of foveal hypoplasia and the thickness of the temporal peripapillary retinal nerve fiber layer (RNFL). Altered development of the foveal pit and abnormalities of foveal vascularization may have long-term structural consequences on the optic nerve by disrupting cone packing and stacking, potentially leading to a reduced number of nerve fibers forming the optic nerve.¹⁶
Other optic disc malformations associated with PAX6 mutations include papillorenal syndrome, optic disc coloboma, morning glory disc anomaly, optic disc aplasia, and persistent hyperplastic primary vitreous. PAX6 negatively regulates the expression of PAX2 (and vice versa), which may partly explain these specific clinical presentations.
3. Other retinal abnormalities
Patients with congenital aniridia exhibit variable degrees of retinal dysfunction, ranging from severely abnormal to nearly normal. Both rod and cone functions are affected.¹⁹˒²⁰ In addition, hypopigmentation of the fundus has been reported in 86% of patients with congenital aniridia,²¹ which may reflect the role of PAX6 in the embryonic differentiation of the retinal pigment epithelium.
Finally, retinal detachment has been reported in congenital aniridia, particularly in association with giant retinal tears. A history of ocular surgery, vitreoretinal abnormalities, and buphthalmos may contribute to the occurrence of these detachments. In the cohort of 230 patients with PAX6-associated aniridia followed at Necker–Enfants Malades Hospital, two children developed retinal detachment during follow-up.
James Lauderdale
Athens, Georgia, USA
Universiti of Georgia
Director of Neurocieneces, Associate Professor of Cellular Biology, Aniridia North America (ANA)
Dr Lauderdale leads collaborative basic and translational research centred on PAX6, using patient‑derived cells, retinal organoids, animal models, and computational approaches to uncover disease mechanisms and therapeutic targets. Current efforts focus on foveal development and the pathogenesis and treatment of aniridia‑associated keratopathy. Dr Lauderdale is Chairperson of the Scientific Committee of Aniridia North America (ANA) and an invited expert on the Scientific Committee of Aniridia Europe.
Beyond the Eye: Pax6 Haploinsufficiency and Its Impact on Cortical and Neuroendocrine Function
Kelly Trout
San Antonio, USA
International WAGR Syndrome Association (IWSA)
RN Director of Research
Kelly Trout, BSN, RN, is a registered nurse and dedicated advocate in the rare disease community. She holds multiple leadership roles with the International WAGR Syndrome Association (IWSA), including serving on its Board of Directors, directing Research and Medical Advocacy, and managing the IWSA WAGR Syndrome Patient Registry. Kelly is also a founding board member of Aniridia North America and Project Lead for the EYEris Aniridia Patient Registry.
Nationally, she serves as the Patient Advocate for the Renal Tumors Committee of the Children’s Oncology Group, the world’s largest organisation focused exclusively on childhood and adolescent cancer research. Her expertise is further recognised through her roles as a former Merit Reviewer for the Patient-Centered Outcomes Research Institute (PCORI), Principal Investigator for the PCORI 2018 Conference on Wilms Tumor in WAGR Syndrome, and current service as a PCORI Ambassador. Kelly is also a member of the Global Genes RARE Foundation Alliance Leadership Council.
An author of numerous articles on WAGR Spectrum Disorder, she has presented her work at national and international conferences. Kelly lives in San Antonio, Texas, with her family. Her advocacy is deeply inspired by her daughter, Caroline, who has WAGR Spectrum Disorder.
Contact: kelly.trout@wagr.org
Beyond the Iris: Managing the Full Spectrum of WAGR Syndrome
Background: Aniridia is frequently a sentinel finding within the broader, complex diagnosis of WAGR Spectrum Disorder (WAGR SD), which carries significant risks for Wilms tumor, genitourinary anomalies, intellectual disability, and a range of other medical, developmental, and behavioral challenges. Optimal patient outcomes depend on a proactive, coordinated care strategy that extends far beyond ophthalmology.
Objective: This presentation will provide a comprehensive overview of WAGR SD, translating genetic diagnosis into a lifelong, interdisciplinary management plan. The goal is to equip clinicians and researchers with the framework to anticipate complications, coordinate care across specialties, and integrate essential surveillance protocols to improve health and quality of life outcomes.
Methods & Content: Drawing from clinical guidelines, research data, and lived experience, this session will:
- Outline the critical surveillance protocol for Wilms tumor and renal health, highlighting the role of the ophthalmologist in initial diagnosis and ongoing referral.
- Detail the common neurodevelopmental, behavioral, and psychosocial profiles associated with WAGR SD, providing strategies for early intervention and family support.
- Highlight the role of patient-powered research, including the IWSA Patient Registry, in defining natural history, uncovering unmet needs, and shaping clinical research priorities.
- Present a model for effective interdisciplinary collaboration, using the presenter’s roles in advocacy and committees like the Children’s Oncology Group as a case study.
Conclusion: Effective management of WAGR SD requires looking “beyond the iris” to a whole-patient, lifespan-oriented approach. By understanding the full spectrum, ophthalmologists become pivotal leaders in initiating and coordinating the essential, multidisciplinary care that safeguards both vision and long-term health. This presentation aims to foster that collaborative mindset, empowering professionals to better serve patients and families navigating this rare disorder.
Keywords: WAGR Syndrome, Interdisciplinary Care, Wilms Tumor Surveillance, Patient Advocacy, Rare Disease, Aniridia, Quality of Life
17.30-18.00 Interdisciplinary approach for better care – round table
18.00-18.30 Session 8 Free presentations
Anna Popova
Sofia, Bulgaria
Bulgarian Society of Ophthalmology
Associate Professor
Associate Professor Anna Tzenkova Popova-Tashkova graduated from the Medical Academy in Sofia in 1976. She started working as a rural district doctor, and later worked as a workshop doctor in a district town. After a specialized two-year training – clinical residency at the University Eye Clinic in Sofia, she acquired a specialty in ophthalmology in 1982. In 1984, she was elected as an assistant at the Scientific Institute of Eye Diseases – Sofia, at the Children’s Eye Clinic and headed the office “Protection of Residual Vision”, located in the specialized School for Children with Impaired Vision – Sofia. She defended her DSc thesis in 1994. From 1995 to 1997, she worked as an ophthalmologist in Homs, Libya. After that, she continued his work at the Eye Clinic/Department of Ophthalmology at the University Hospital “Alexandrovska”, Sofia. In 2011, she received the title of Associate Professor. She is a long-time lecturer in eye diseases at the Medical and Dental Faculties of the Medical Institute in Sofia and the Pedagogical Faculty of Sofia University.
The clinical, teaching and scientific activities and interests of Assoc. Prof. Popova are in the field of pediatric ophthalmology and ophthalmogenetics.
Membership in professional organizations
Bulgarian Medical Association; Union of Ophthalmologists in Bulgaria; Sofia Ophthalmological Society; Bulgarian Society of Human Genetics; Union of Scientists in Bulgaria; Czech Ophthalmological Society; American Association of Children with Retinopathy of Prematurity (ROPARD).
Additional information
Over 180 scientific articles published in our periodicals and other journals, active participation in a number of conferences, symposia, congresses in Bulgaria and abroad, participation in scientific projects, author and co-author of our textbooks on eye diseases, has one rationalization and patent for the invention of a clinical-genetic method, one monograph.
Clinical-genetic forms of congenital aniridia in Bulgaria
Introduction: From the time of the first clinical description of patients with congenital aniridia (CA) in foreign literature (1819) and in our country (1943) to the present day (third decade of the 21st century), this rare, but complex and significant congenital eye pathology in the causes of childhood blindness, has undergone continuous development and upgrading.
Objective: To present the main contemporary clinical-genetic forms (CGF) of CA in Bulgaria.
Material and Methods: Personally examined and long-term followed-up children and adults with CA, who went through the School for Children with Visual Impairment, Sofia, Children’s Eye Department and Children’s Eye Office of the University Hospital “Aleksandrovska”, Sofia. Literature data. All routine, and, if indicated, specialized ophthalmological, ophthalmogenetic and molecular genetic methods were used to prove patients with CA in our country, as well as the medical documentation of the patients. Personal experience for the period 1984 – 2023 is shared.
Results: A total of 47 patients with bilateral CA were personally examined, of which 28 were children (59.6%). Sporadic cases were 10 (21.3%), familial cases – 37 (78.7%) patients, from 12 pedigrees. A total of 35 (94.6%) patients had AD inheritance and 2 (5.4%) had AR. 42 (89.4%) of the examined patients had “Aniridia syndrome”. 5 patients (10.6%) had “Aniridia plus syndrome”. Molecular genetic examination with NGS-technologies was performed in 6 patients (genes: PAX6; VSX1).
Discussion: The Bulgarian population of patients with CA is characterized by extensive clinical-genetic polymorphism.
Conclusion: In order to promote children’s vision and prevent the consequences of complications (ocular or systemic) leading to deterioration or loss of the underlying low vision, every patient with CA, regardless of the CGF, needs regular ophthalmological examinations and consultations throughout their lives.
Keywords: congenital aniridia, clinical-genetic forms
Catia Mio
Udine, Italy
University of Udine
Associate Professor
After graduating in Medical Biotechnology, I obtained my PhD in Molecular and Cellular Medicine at the University of Udine (Italy). Genetics has always been one of the main focuses of my career. During my PhD and in the early years of my postdoctoral research, I was involved in research projects meant to understand the molecular bases of tumorigenesis, in order to dissect the inner molecular networks and to identify putative therapeutic targets, mostly epigenetic compounds. Following my internship at Institute of Genetics and Cancer (The University of Edinburgh, UK), the focus of my research began to include modulation of gene expression by cis-regulatory elements (CRE). I am currently an Associate Professor of Medical Genetics at the University of Udine. My main research interests concern ocular dysgenesis, in particular, the development of new therapeutic strategies for aniridia.
Restoring PAX6 expression via CRISPR activation: a road towards transparency
Catia Mio1, Lorenzo Allegri1, Federica Baldan1, Alessandra Franzoni2, Giuseppe Damante1,2, Flavio Faletra1,2
1 Department of Medicine (DMED), University of Udine, Udine, Italy;
2 Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy.
Background: Aniridia is a rare pan-ocular genetic disease primarily characterised by iris and/or foveal absence or hypoplasia. Common complications include nystagmus, glaucoma, cataract and aniridia-associated keratopathy (AAK). This autosomal dominant disorder is linked to heterozygous variants in the PAX6 gene, ultimately causing haploinsufficiency. Currently, no universal vision-sparing treatment exists for aniridia, though several therapies have been proposed to counter its complications.
Aim: Aim of this study was exploiting the CRISPR activation (CRISPRa) system to target the promoter region of PAX6, with the goal of restoring its expression in vitro.
Methods: We exploited the clustered regularly interspaced short palindromic repeats (CRISPR)-mediated transcriptional activation (CRISPRa) system using a dCas9 fused to the VP160 activator to target the PAX6 P1 promoter region aiming to restore its canonical expression. Three different single guide RNAs (sgRNAs) were designed for this purpose.
Results: The ability of the CRISPRa system to trigger PAX6 expression was tested in three in vitro models: i) a PAX6 wild-type model (hTERT RPE-1); ii) a PAX6 non-expressing model (MCF7); and iii) a PAX6 haploinsufficient model (GM10274). CRISPRa was able to significantly boost both PAX6 RNA and protein expression. Furthermore, chromatin immunoprecipitation (ChIP) confirmed the increase of PAX6-binding to its known targets, ascertaining protein functionality. Among the sgRNAs tested, SG2 yielded the best results, doubling PAX6 expression while maintaining protein functionality.
Conclusions: Although preliminary, our data highlights that the CRISPRa system is able to restore PAX6 expression and functionality in vitro. These results support further exploration of CRISPRa-based therapies for haploinsufficiency-related diseases.
Keywords: genome editing; PAX6; CRISPR/Cas9; CRISPR activation.
Sunday, 19 April 2026
08.30-11.00 Session 9: New diagnostic approaches and therapeutic innovations
Neil Lagali
Linköping, Sweden
Linköping University
Professor
New diagnostic approaches and therapeutic innovation
Erlend Landsend
Oslo, Norway
Oslo University Hospital
Senior Consultant and Researcher, MD, PhD
Erlend Christoffer Sommer Landsend completed his medical degree at the University of Oslo. He was trained as an ophthalmologist at the eye departments in Ålesund and Tønsberg, and finally at Oslo University Hospital where he is now working as a senior consultant and researcher. Landsend specialized in paediatric ophthalmology. His Ph.D. concerned various aspects of congenital aniridia. His current research mainly deals with congenital eye diseases, visual complications to prematurity, and myopia.
Follow-up of children with congenital aniridia – an interdisciplinary approach
Congenital aniridia is a rare genetic eye disorder with total or partial absence of the iris from birth. Hypoplasia of the retinal fovea is usually present and is associated with reduced visual acuity and nystagmus. Aniridia-associated keratopathy, glaucoma, and cataract are serious and progressive complications that can further reduce visual function. Refractive errors are also common in aniridia. In a study from Norway, 14.2% of the aniridia patients had high-grade hyperopia and 21.4% had high-grade myopia. In another Norwegian study, manifest strabismus was detected in 88% of the participants, whereof 61% had esotropia, 24% had exotropia, and 3% had a vertical deviation. We have also found that reduced health-related quality of life in aniridia is associated with increased symptoms of anxiety, depression, and obesity, and with presence of ocular pain. Moreover, those who suffered from ocular pain reported more difficulties with executive functioning, sleepiness and fatigue. Hence, the follow-up of young children with aniridia should not only aim at detecting progressive ocular complications but also focus on correcting refractive errors and manage strabismus to achieve best possible visual function and prevent amblyopia. Measures to prevent anxiety, depression, obesity, and ocular pain could possibly also improve quality of life and functioning later in life in these children.
Fabian Fries
Homburg, Germany
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
Doctor
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 optimisation of surgical management in this condition. He is an active clinician at the Homburg Aniridia Centre, which with over 420 aniridia patients, is one of the largest centres of excellence internationally. In addition to his recognised expertise in the clinical management of aniridia, Dr. Fries is a prolific investigator, having authored more than 100 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.
Diagnostics in aniridia
Congenital aniridia is a rare panocular disorder associated with progressive ocular surface disease, particularly aniridia-associated keratopathy (AAK). Early and structured diagnostics are essential for monitoring disease progression and guiding therapeutic decisions. Clinical documentation in larger patient cohorts allows increasingly robust insights into diagnostic features of this rare disease. This presentation highlights current diagnostic approaches in aniridia, including detailed clinical examination and anterior segment imaging. Particular focus will be placed on the diagnostic assessment and staging of AAK. In selected cases, surgical interventions may also contribute to improved diagnostic evaluation of the ocular surface and underlying structures.
Ava Dashti
Linköping, Sweden
Linköping University
PhD student
I am a PhD student at Linköping University, Sweden, in the Department of Biomedical and Clinical Sciences. My research focuses on rare ocular diseases, with particular emphasis on understanding disease mechanisms and identifying potential therapeutic targets. My primary area of interest is limbal stem cell deficiency, especially aniridia-associated keratopathy (AAK), a severe corneal disorder that causes progressive vision loss. Through mechanistic and translational research, I aim to deepen understanding of this condition and contribute to the development of improved treatment strategies for affected patients. My work is driven by a strong interest in ocular pathology and translational medicine, as well as a commitment to advancing scientific knowledge in the field of rare eye diseases.
Targeting insulin receptor substrate-1 delays disease progression in a murine model of aniridia-associated keratopathy
Targeting pathological corneal neovascularization arising from infection or disease is essential to preserve corneal transparency and avoid vision loss. Aniridia-associated keratopathy (AAK), a rare genetic eye condition caused by PAX6 haploinsufficiency, leads to chronic inflammation, neovascularization, and vision loss, and has limited therapeutic options. Here we evaluated Olisens®, an antisense oligonucleotide targeting insulin receptor substrate-1 (IRS-1), in a Pax6 heterozygous mouse model of AAK. Topical delivery of Olisens for 90 days significantly suppressed pathological blood and lymph vessel ingrowth into the cornea, delaying the disease course. Transcriptomic analysis revealed sustained suppression of immune responses including dendritic cell maturation, macrophage activation, and cell proliferation. Additionally, Olisens enhanced transcripts of epithelial healing factor Lars2 in the cornea and LARS2 protein expression in the peripheral epithelium and normalized peripheral corneal thickness. While vascular regrowth occurred after stopping treatment, immune pathway suppression persisted. Our results indicate targeting IRS-1 using topical Olisens reduces inflammation and neovascularization, thereby delaying AAK progression and suggesting anti-neovascular treatment as a therapeutic strategy for AAK.
Mert Mestanoglu
Cologne, Germany
University Hospital Cologne
Doctor
Dr Mert Mestanoglu is a clinician-scientist and resident of ophthalmology at the University Hospital Cologne, specialising in corneal diseases and experimental ophthalmology. After ranking first in Turkey’s national university entrance exams, he graduated with high honours from Bahcesehir University School of Medicine, Turkey and gained international experience at prestigious institutions like Harvard Stem Cell Institute and Moorfields Eye Hospital. His award-winning research focuses on the molecular mechanisms of corneal transplantation rejections, clinical outcomes after corneal transplantation and sight-restoring therapies.
Antisense Oligonucleotide Eye Drops Against IRS-1 to Treat Pathological Corneal Neovascularisation in Aniridia-Associated Keratopathy
Antisense oligonucleotide therapy, from bench to clinic
Aniridia-associated keratopathy (AAK) is a progressive corneal opacity characterised by corneal neovascularisation (CoNV). It is the leading cause of vision impairment and blindness in patients with congenital aniridia. Currently, there is no approved antiangiogenic therapy available for patients with progressive CoNV in AAK. Olisens (previously known as Aganirsen or GS-101), an antisense oligonucleotide eye drop targeting insulin receptor substrate 1 (IRS-1) — an upstream regulator of corneal angiogenesis and inflammation — has previously been shown to inhibit progressive CoNV due to other causes in Phase II and III clinical trials. However, there are currently no prospective data available on the efficacy and safety of Olisens in AAK. A prospective clinical trial of this promising drug for an under-researched, rare eye disease has recently been approved. This talk will discuss the details of the trial.