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Sa22 Congenital Aniridia – new clinical, genetic and molecular insights from patient cohorts in 5 European countries

Symposium of the DOG 2020 Online
online, Deutschland
Veranstaltungsnummer: 34192
Zertifizierung: beantragt
Gebühren ab: gebührenfrei
verfügbare Plätze: unbegrenzt
Sprache: Deutsch

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  • Datum
    10.10.2020, 15:30 - 16:15
    DOG - Deutsche Ophthalmologische Gesellschaft e.V.
    The purpose of this symposium is to provide an update of our current and evolving knowledge of the genetic, clinical, micro-morphological, and molecular aspects of AAK. The referents draw upon recent studies and observations in adults and pediatric patients from large aniridia cohorts across Europe.


    Teilnehmer max.

    Gebühren ab
    120,00 €
    This symposium is part of the DOG congress 2020 (9.-11.2020). The attandance for the total congress costs 250€ for members and 120€ for non-members.

    Ärzte/-innen in Weiterbildung

    Teilnehmer max.

    Gebühren ab
    120,00 €
    This symposium is part of the DOG congress 2020 (9.-11.2020). The attandance for the total congress costs 250€ for members and 120€ for non-members.


    Teilnehmer max.

    Gebühren ab
    The full congress is free for students and PhD students.
  • 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 – 15:37

    Sa22-01 - 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.

  • This symposium is virtual. Saal Helmholtz

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    Nóra Szentmáry, Homburg/Saar
    Neil Lagali, Linköping, Sweden
  • Please contact the roganizer for further information.