Sa22 Congenital Aniridia – new clinical, genetic and molecular insights from patient cohorts in 5 European countries
Symposium of the DOG 2020 Online
Sa22 Congenital Aniridia – new clinical, genetic and molecular insights from patient cohorts in 5 European countries
Symposium of the DOG 2020 Online
INTERPLAN AG
Congress, Meeting & Event Management AG
Landsberger Straße 155
DE - 80687 München
Tel.: +49 (0)89 548 234 35
Tel.: +49 (0)89 548 234 0
Fax: +49 (0)89 548 234 43
Fax: +49 (0)89 548 234 44
Chairman
Nóra Szentmáry, Homburg/Saar |
Neil Lagali, Linköping, Sweden |
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Basisinformation
Datum10.10.2020, 15:30 - 16:15SpracheEnglischGebühren abgebührenfreiVeranstalterDOG - Deutsche Ophthalmologische Gesellschaft e.V.
OrganisatorINTERPLAN AG
Congress, Meeting & Event Management AG
Landsberger Straße 155
DE - 80687 München
Tel.: +49 (0)89 548 234 35
Tel.: +49 (0)89 548 234 0
Fax: +49 (0)89 548 234 43
Fax: +49 (0)89 548 234 44Chairman
Nóra Szentmáry, Homburg/Saar Neil Lagali, Linköping, Sweden -
Programm
Aniridia is a congenital pan-ocular disorder caused by haplo-insufficiency of PAX6, a crucial gene for proper development of the eye. Aniridia affects a range of eye structures, including the cornea, iris, anterior chamber angle, lens, and fovea. The ocular surface, in particular, can be severely affected by a progressive pathology termed aniridia-associated keratopathy (AAK), markedly contributing to impaired vision. Aniridia may also be part of several syndromes including WAGR (Wilms tumor, aniridia, genitourinary abnormalities and intellectual disability) and WAGRO syndromes (WAGR and obesity).
15:30 – 15:37Sa22-01 - Aniridia is no prerequisite for Aniridia - broad phenotypic spectrum in PAX6 Syndrome
Referent/in: Barbara Käsmann-Kellner, Homburg/Saar
We present the ocular and systemic manifestations in patients with genetically confirmed PAX6 syndrome. Ocular findings include partial aniridia, complete presence of the iris with distinct PAX6-related keratopathy, microphthalmia, congenital corneal opacifications and others.
Special attention will be given to systemic concomitant diseases of PAX6 syndrome, which may be not only endocrinological but also central nervous system related. With different manifestations, they offer a complex clinical picture in persons with PAX6 syndrome.15:37 – 15:44 Sa22-02 - Limbal stem cell deficiency in aniridia
Referent/in: Maria Notara, Köln
Aniridia is a progressive and devastating ocular disease requiring intensive eye care, social and community support from birth and throughout an individual's lifetime. It is extremely challenging for the ophthalmologist, with very few effective treatments available, as all current conservative or surgical treatments have poor outcome. We have identified a gap in the literature where the current practices and challenges in limbal stem cell (LSC) transplantation, one of the few realistic therapeutic options for aniridia-associated keratopathy is reviewed with a special focus on this rare disease (ORPHA:77).
LSC transplantation is a successful therapeutic strategy for limbal stem cell deficiency (LSCD). Despite success in some patients, offering significantly improved vision for a period spanning an average up to 2-3 years, challenges of post-transplantation include persistent inflammation and neovascularization, which may lead to the death of transplanted stem cells followed by prevailing of the conjunctiva. LSC transplantation in aniridia patients presents special challenges related to pax 6 genetic alterations affecting the micro-milieu of the niche and the transplantation outcome. Additionally, the onset of the condition occurs during childhood, which makes it difficult and ethically challenging to decide on when to preform LSC transplantation for it to be timely. These reasons lead to reduced success rates compared to other LSCD patients leaving aniridia sufferers with limited therapeutic options. This presentation will summarize the various therapies available for LSCD-related aniridia, specific aniridia-related challenges relevant to graft failure aiming to propose alternative treatment strategies, alternative cell sources for transplantation, novel pharmacological approaches and gene therapy. The improvement of current practices and the identification of novel treatments will help clinicians to understand and treat aniridia as well as patients and their families to manage the disease.
15:44 – 15:51 Sa22-03 - Lessons from transcriptional analyses of ocular surface cells in congenital aniridia
Referent/in: Lorenz Latta, Homburg/Saar
In limbal cells derived from aniridia patients with aniridia associated keratopathy (AAK), differentiation can be analyzed. The differentiation markers KRT12 and DSG1 are downregulated similar to animal models. In addition, there are dysregulated mRNAs associated with retinoic acid signaling in conjunctival and limbal cells of these patients. We may also identify preferential genotype phenotype associations with regard to AAK and retinoic acid signaling. Aniridic conjunctiva exhibits a pro-angiogenic and proliferative state.
15:51 – 15:58 Sa22-04 - Aniridia-associated keratopathy: origins, phenotype, genetics and prognosis based on European cohort studies
Referent/in: Neil Lagali, Linköping, Sweden
Advanced ophthalmic imaging and coordinated efforts examining patient groups in multiple countries have enabled characterization of aniridia-associated keratopathy (AAK) and the underlying inflammation and progressive limbal stem cell insufficiency in unprecedented detail. Here, we describe observational and genotype-phenotype studies in aniridia cohorts within several European countries, that reveal a detailed picture of AAK development and progression starting from the earliest stages in infancy, that is strongly dependent on the specific mutational status of the individual.
15:58 – 16:05 Sa22-05 - Surgical treatment of aniridia keratopathy
Referent/in: Edward Wylegala, Katowice, Poland
Aniridia keratopathy occurs in most patients with congenital iris deficiency. Surgical treatment includes pannus excision, limbal stem cell transplantation, amniotic membrane transplantation, penetrating keratoplasty keratoprosthesis implantation. The practical aspects of the surgical techniques are discussed in the presentation.
16:05 – 16:12 Sa22-06 - OCT in a French cohort of congenital aniridia
Referent/in: Dominique Bremond-Gignac, Paris, France
Aniridia is a congenital panocular disorder characterized by complete or partial iris hypoplasia and foveal hypoplasia, resulting in nystagmus and reduced visual acuity. High-resolution foveal imaging by spectral-domain optical coherence tomography (SD-OCT) has improved over recent years the evaluation of foveal architecture. Purpose of the study is to analyze foveal anomalies on SD-OCT in a large cohort of French aniridia patients, and to correlate these findings to their visual acuity and PAX6 gene abnormalities.
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Gebühren
Fachärzte/-innenGebühren ab120,00 EURÄrzte/-innen in WeiterbildungGebühren ab120,00 EURStudenten/-innenGebühren abgebührenfreiThe full congress is free for students and PhD students.
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Zertifizierung
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