8.00 h

Onsite registration opens

8.30 h – 09.00 h

Welcome

Prof. Dr. Birgit Lorenz

President of ISGEDR

Speaker of the Section Genetics of the German Ophthalmological Society (DOG)

Head and Chairman of the Department of Ophthalmology, Justus-Liebig University Giessen and University Medical Center Giessen and Marburg GmbH, Giessen Campus

Prof. Dr. Joybrato Mukherjee

President of the Justus-Liebig University Giessen

President elect of the Germany Academic Exchange Service (DAAD)

Prof. Dr. Wolfgang Weidner

Dean of the Medical Faculty, Justus Liebig University, Giessen

Prof. Dr. Andreas Böning

Chief Medical Officer, University Medical Center Giessen and Marburg GmbH, Giessen Campus

09.00 h – 10.50 h

1. Session

Performing And Communicating Molecular Diagnostics

Chair: Hanno Bolz, David Mackey

09.00 h

Bolz, Hanno Jörn, Frankfurt, Germany

T01: NGS: Diagnostic opportunities and challenges of gene panel, whole-exome and whole-genome sequencing

09.20.h

Mackey, David,Subiaco, Australia

T02: Predictive testing in glaucoma

09.40 h

Capasso, Jenina,Philadelphia, USA

T03: We need more genetic counselors!

10.00 h

Arno, Gavin, London, United Kingdom

O01: Interrogation of the 100,000 genomes project ophthalmic disease cohort reveals novel genes, new associations and previously undetectable mutations

10.10 h

Debenedictis, Meghan,Cleveland, USA

O02: The value of CNV analysis for inherited retinal diseases

10.20 h

Hufnagel, Robert,Bethesda, USA

O03: Modeling gene constraint in disease populations for clinical molecular diagnostics

10.30 h

Kellner, Ulrich,Siegburg, Germany

O04: DNA testing in a series of 944 patients with inherited retinal dystrophies from a single german reference center

10.40 h

Wells, Kirsty, Helsinki, Finland

O05: Enhancing diagnostic performance in inherited retinal diseases through advances in high resolution copy number detection and RPGR ORF15 sequencing

Associated Posters

Lei, Bo, Zhengzhou, Henan, China

P01: Whole-exome sequencing identifies a novel homozygous missense variant in REEP6 in a retinitis pigmentosa patient complicated with macular hole

Pantrangi, Madhulatha,Marshfield, USA

P02: Shaping ‘PreventionGenetics’ comprehensive inherited retinal disorder panel for the clinical setting and to improve diagnostic yield

Chan, Choi Mun, Singapore, Singapore

P03: Genetic testing for macular dystrophies : The Singapore National Eye Centre experience

10.50 h – 11.20 h

Coffee Break

Poster Session

11.20 h – 13.00 h

2. Session

ClinicalStudies in Gene Therapy I

Chair: Francesca Simonelli, Juliana Sallum

11.20 h

Leroy, Bart P, Ghent,Belgium

T04: Safety & Efficacy of Antisense Oligonucleotide Therapy (QR-110) in LCA10 Patients with the c.2991+1655A>G Allele in CEP290

11.40 h

Sahel, José-Alain, Paris, France

T05: Leber Hereditary Optic Neuropathy: Gene Therapy for an Ultra-Orphan Blinding Disease

Phenotypes – Free Papers

Chair: Francesca Simonelli, Juliana Sallum

12.00 h

Brooks, Brian, Bethesda,USA

O06: Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

12.10 h

Escher, Pascal, Bern, Switzerland

O07: Molecular and cellular mechanisms in NR2E3-linked retinal degenerations

12.20 h

Grubich Atac, David, Schlieren, Switzerland

O08: ATOH7 loss-of-function mutations in a family with hypoplasia of the optic nerve

12.30 h

Munier, Francis,Lausanne, Switzerland

O09: Prevention of intravitreal melphalan-induced chorioretinopathy: identification of potential risk factors.

12.40 h

Ruddle, Jonathan,Parkville, Australia

O10: The genetic and clinical landscape of nanophthalmos in an Australian cohort

12.50 h

Chaudhuri, Zia, Delhi, India

O11: Pedigree analysis of familial primary concomitant horizontal strabismus in a South Asian population

Associated Posters

Abdel-Rahman, Mohamed,Columbus, USA

P04: Assessment of the clinical phenotype of BAP1germline whole gene and large deletions

Branham, Kari, Ann Arbor, USA

P05: Suspicion for ABCA4-related retinal dystrophy: Clues beyond the typical Stargardt Phenotype

Bryjova, Barbara,Giessen, Germany

P06: Misinterpretation of an OMD phenotype from a common sequence variation in RP1L1 in a family with multiple sclerosis

Ehrenberg, Miriam, Petach Tikva, Israel

P07: Double struggle

Everett, Lesley, San Francisco, USA

P08: Ocular findings in two patients with vascular smooth muscle myopathy secondary to ACTA2 mutations

Ibanez Iv, Manuel Benjamin, Philadelphia, USA

P09: Stargardt misdiagnosis: How ocular genetics helps

Kameya, Shuhei, Inzai, Japan

P10: A novel homozygous in-frame deletion of GNAT1 gene cause golden discolouration of the fundus and reduced dark-adapted ERG similar to that of Oguchi disease in a Japanese family

Majander, Anna, Helsinki, Finland

P11: Clinical characteristics of early onset retinal dystrophy in association with the TULP1 c.148delG mutation

Mauring, Laura,Strasbourg, France

P12: Alström syndrome with atypical retinal dystrophy and inheritance

Prasov, Lev, Flint, USA

P13: Clinical and genetic features of Jalilli syndrome in a North American patient cohort

Starosta, Daniela Aneta, Giessen, Germany

P14: Phenotype in five related patients with isolated optic nerve atrophy associated with a heterozygous mutation in the spastic paraplegia gene 7.

13.00 h – 14.30 h

Lunch Break

Poster Session

14.30 h – 15.50 h

3. Session

Stem Cells

Chair: Mike Karl, Eyal Banin

14.30 h

Bachmann, Björn, Cologne,Germany

T06: Treatment options for limbal stem cell deficiency in inhereted eye diseases

14.50 h

Karl, Mike, Dresden, Germany

T07: Towards modeling of neuronal and glial pathologies in retinal organoids

15.10 h

Banin, Eyal, Jerusalem, Israel

T08: Derivation of RPE cells from human embryonic stem cells (hESCs): The journey from basic research to clinical application

15.30 h

Battu, Rajani, Bangalore, India

O12: Differentiation and characterization of RPE from hiPSC and its subretinal transplantation in RCS rats

15.40 h

Galardi, Angela,Rome, Italy

O13: Proteomics profiling of retinoblastoma derived exosomes

15.50 h – 16.20 h

Coffee Break

Poster Session

16.20 h – 17.05 h

Franceschetti Medal & Lecture

16.20 h

Albert Franceschetti, Lausanne, Switzerland

Introduction to the Franceschetti Medal & Lecture

16.35 h

Sieving, Paul, Bethesda,USA

L1: Clinical features and molecular basis of X-linked retinoschisis: From mechanism to therapy.

17.05 h – 18.35 h

4. Session

Biomarkers for Substantiating Success in Treatment

Chair: Tomas Aleman, Michael Hoffmann

17.05 h

Aleman, Tomas, Philadelphia,USA

T09: AAV2-hCHM subretinal delivery to the macula in choroideremia: performance of outcome measures

17.25 h

Hoffmann, Michael,Magdeburg, Germany

T10: Plasticity and its limits – Cortical visual field representations in achromatopsia

17.45 h

Gocho, Kiyoko, Inzai, Japan

T11: High-resolution retinal  imaging analysis in female carriers of choroideremia

18.05 h

Lima de Carvalho Jr, Jose Ronaldo,Recife, Brazil

O14: Multimodal imaging of patients with Best Vitelliform Macular Dystrophy (BVMD): a 4-year follow-up study.

18.15 h

Sallum, Juliana, Sao Paulo, Brazil

O15: Characterization of the Brazilian ARSACS phenotype: clinical, ophthalmological, neuroimaging, and genetic features of fourteen cases

18.25 h

Studer, Fouzia,Strasbourg, France

O16: Retinal implantation with Argus II artificial retina in 3 patients with Bardet-Biedl syndrome

Associated Posters

Tanrikulu, Özgün,Giessen, Germany

P15: Analysis of outer retinal layer alterations in patients with RPE65deficiency using Optical Coherence Tomography A-Scan-Analysis

19.30 h

Gala Dinner

Restaurant Heyligenstaedt, Aulweg 41, 35392 Gießen

8.00 h

Onsite Registration

8.30 h – 10.00 h

5. Session

Luxturna Therapy – Recent Developments

Chair: Stephen Russell, Paul Sieving

08.30 h

Leroy, Bart P, Ghent, Belgium

T12: voretigene neparvovec for RPE65-related inherited retinal dystrophies: The Philadelphia Experience

08.45 h

Drack, Arlene, Iowa City, USA

T13a: How long does gene therapy last?  4 Year followup and adult versus pediatric outcomes of phase 3 voretigene neparvovec trial in RPE65–associated LCA/inherited retinal disease

T13b: Electrophysiology following subretinal treatment with voretigene neparvovec (Luxturna)

09.00 h

Simonelli, Francesca,Naples, Italy

T14: Our experience with gene therapy approaches for RPE65 inherited retinal diseases

09.15 h

Lorenz, Birgit,Giessen, Germany

T15: Country specific problems to get started with EMA-approved gene therapy with Luxturna

09.30 h

Chung, Daniel C., Philadelphia, USA

T16: The post-authorization safety study of voretigene neparvovec-rzyl

09.45 h

Panel Discussion

10.00 h – 10.30 h

Coffee Break

Poster Session

10.30 h – 11.15 h

Ellsworth Lecture

10.30 h

Francis Munier, Lausanne, Switzerland

Introduction to Ellsworth Lecture

10.45 h

Desjardins, Laurence,Rochefort En Yvelines, France

L2: Retinoblastoma around the world in 2019

11.15 h – 13.25 h

6. Session

Precision Care for Children with Retinoblastoma

Chair: Brenda Gallie, Dietmar Lohmann

11.15 h

Di Giannatale, Angela,Rome, Italy

T17: Proteomics for biomarker identification in retinoblastoma liquid biopsy

11.35 h

Cole, Trevor, Birmingham, United Kingdom

T18: The current and future role of cell free DNA analysis in the management of retinoblastoma.

11.55 h

Gallie, Brenda,Toronto, Canada

T19: Disruptive innovations to reach precision retinoblastoma care

12.15 h

Soliman, Sameh,Toronto, Canada

T20: Optimizing focal laser photocoagulation therapy for retinoblastoma

12.35 h

Everett, Lesley, San Francisco, USA

O17: Retinoblastoma treatment in the age of intra-vitreal and intra-arterial chemotherapy: the UCSF experience

12.45 h

De Jong, Marcus,Amsterdam, Netherlands

O18: Screening for pineal trilateral retinoblastoma revisited: a meta-analysis

12.55 h

Menges, Julia, Essen, Germany

O19: A human organoid-based model for retinoblastoma

13.05 h

Tsygankov, Alexander,Moscow, Russian Federation

O20: New retinoblastoma cell culture establishment and drug resistance assessment

13.15 h

White, Jaclyn, Clayfield, Australia

O21: Delay in the diagnosis of retinoblastoma: the role of parents and practitioners

Associated Posters

Hattori, Hiroyoshi,Nagoya, Japan

P16: Bilateral retinoblastoma with 13q-syndrome in a patient carrying an X;13 balanced translocation without rearrangement of the RB1 gene

13.25 h – 14.05h

Lunch Break

Poster Session

14.05 h – 14.45 h

7. Session

Clinical Studies in Gene Therapy II

Chair: Birgit Lorenz, Bart Leroy

14.05 h

MacLaren, Robert,Oxford, UK

T21: Gene therapy for X-linked retinitis pigmentosa caused by mutations in RPGR

14.25 h

Russell, Stephen, Iowa City, USA

T22: Surgical challenges and outcomes with voretigene neparvovec (Luxturna)

Treatment-associated Posters

Alfarsi, Ammar,Muscat, Oman

P17: Intravitreal ranibizumab (Lucentis®) in the treatment of non-leaking macular cysts in retinal dystrophy

Andrassi-Darida, Monika, Giessen, Germany

P18: Laser photocoagulation for hemorrhagic retinopathy in a newborn with Norrie disease

Cui, Xuan, New York, USA

P19: Enhancing glycolytic metabolism with gene therapy and a small molecule drug attenuates neurodegeneration

Reschke, Madlen,Essen, Germany

P20: Individual treatment of an infant with severe conjunctivitis lignosa (CL) and other systemic manifestations of plasminogen deficiency, caused by a compound mutation of the PLG gene

15.00 h

Excursion by bus

Marburg

19.30 h

Gala Dinner

Schloß Rauischholzhausen, Ebsdorfer Grund

Approx. 23.00 h

Return to Giessen

8.00 h

ISGEDR General assembly

9.00 h – 10.30 h

8. Session

Secondary Cancer and Survival in Retinoblastoma

Chair: Petra Ketteler, Ashwin Reddy

09.00 h

Ketteler, Petra, Essen,Germany

T23: The Impact of the Type Of Predisposing RB1Variants on the Incidence of Malignancies

09.20 h

Moll, Annette, Amsterdam, Netherlands

T24:Retinoblastoma and second primary malignancies: a Dutch overview and update

09.40 h

Lohmann, Dietmar,Essen, Germany

O22: Understanding and predicting tumor risk in heritable retinoblastoma

09.50 h

Abdel-Rahman, Mohamed,Columbus, USA

O23: Study of genetic predisposition to uveal melanoma

10.00 h

Reddy, M. Ashwin, London, United Kingdom

O24: Prognostic information for mosaic and high penetrant carriers of RB1 mutations

10.10 h

Shah, Parag, Coimbatore, India

O25: Outcomes of RB1 gene testing from blood samples of 113 retinoblastoma survivors and their families (398 in total) collected on a single day at Aravind Eye Hospital, Coimbatore, India.

10.20 h

van Hoefen Wijsard, Milo, Amsterdam, Netherlands

O26: Type of RB1mutation and age at diagnosis of familial retinoblastoma screened from birth.

Associated Posters

Janic, Ana, Toronto, Canada

P21: Patient-reported outcome measures for retinoblastoma: A scoping review

Jansen, Robin,Amsterdam, Netherlands

P22: Should postlaminar optic nerve tumor invasion into the outer layers be considered a risk-factor for leptomeningeal spread of retinoblastoma? A case report and review of the literature

Saakyan, Svetlana,Moscow, Russian Federation

P23: Long-term follow-up after retinoblastoma: secondary malignancy.

10.30 h – 11.00 h

Coffee Break

Poster Session

11.00 h – 12.30 h

9. Session

Patients in Focus

Chairs: Christina Fasser, Helene Dollfus

11.00 h

Dollfus, Helene,Strasbourg, France

T25: What could be the EYE-EYE role in rare eye diseases care in Europe?

11.15 h

Fujinami, Kaoru,Toyko, Japan

T26: Clinical and genetic characteristics of East Asian patients with inherited retinal disorders

11.30 h

Dimaras, Helen,Toronto, Canada

T27: Achieving meaningful patient research partnership: development of the Canadian Retinoblastoma Research Advisory Board

11.45 h

Gallie, Brenda,Toronto, Canada

T28: DEPICT HEALTH “full view for life” for circle of care including families will empower research

11.55 h

Badura, Franz,Amberg, Germany

T29: The PRO RETINA patient registry

12.05 h

Fasser, Christina,Zürich, Switzerland

T30: Leave no one behind –Patient’s perspective

12.15 h

Panel Discussion

Associated Posters

Escher, Pascal, Bern,Switzerland

P24: The Swiss Registry of Rare Eye Diseases

Nanos, Stephanie, Toronto, Canada

P25: The Canadian Retinoblastoma Research Registry

Ristevski, Ivana,Toronto, Canada

P26: The top 10 retinoblastoma research priorities in canada as determined by patients, clinicians and researchers

12.30 h – 13.15 h

François-Lecture

12.30 h

Bart Leroy, Ghent, Belgium

Introduction to the François-Lecture

12.45 h

Lorenz, Birgit, Giessen,Germany

L3: Biomarkers in IRDs: scientifically valid – clinically relevant

13.15 h – 14.00 h

Lunch Break

Poster Session

Microphthalmia – Anophthalmia – Coloboma – Developmental Failures

Bacci, Giacomo, Firenze, Italy

P27: Novel mutations in MFRPand PRSS56 genes associated to posterior microphthalmos

Balikova, Irina, Gent, Belgium

P28: Mendeliome in patients with microphthalmia, anophthalmia and coloboma – results and challenges

Friedburg, Christoph,Giessen, Germany

P29: Early onset severe retinal dystrophy with irido-chorioretinal coloboma with optic disc dysplasia and macular hypoplasia in one eye due to a heterozygous GDF6-mutation

Pfäffli, Oliver,Zürich, Switzerland

P30: Genotype phenotype correlation in a case series of nanophthalmos

Ramzan, Khushnooda,Riyadh, Saudi Arabia

P31: Novel phenotype-genotype correlation with PEX6 gene in Saudi patients with Heimler syndrome

Takitani, Guilherme,São Paulo – Sp, Brazil

P32: Microcephaly and chorioretinopathy associated with TUBGCP4 mutation

14.00 h – 15.00 h

10. Session

Understanding Treatment Effects from Natural History Studies

Chair: Elias Traboulsi, Hendrik Scholl

14.00 h

Scholl, Hendrik, basel, Switzerland,Switzerland

T31: Natural history of the progression of atrophy secondary to Stargardt disease (ProgStar) study

14.20 h

Hahn, Leo, Amsterdam, Netherlands

O27: Long-term follow-up, phenotypic and genetic spectrum of patients with juvenile X-linked retinoschisis in the Netherlands

14.30 h

Nguyen, Xuan-Thanh-An, Leiden, Netherlands

O28: The disease course of rhodopsin (RHO)-associated retinitis pigmentosa (RP): a follow-up study

14.40 h

Senatore, Alfonso,Durham, USA

O29: “Further evaluation of a simple perimetric approach to the differential diagnosis between blue cone monochromacy (BCM) and achromatopsia (ACHM)”

14.50 h

Testa, Francesco, Napoli, Italy

O30: Longitudinal natural history study in patients with Retinitis Pigmentosa in preparation for gene therapy clinical trials

15.00 h – 15.30 h

Coffee Break

Poster Session

Glaucoma

Hosono, Katsuhiro, Hamamatsu,Japan

P33: A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation

Lang, Elena, Zurich, Switzerland

P34: Genotypic and phenotypic characterization of childhood glaucoma

Naruse, Sho, Kitakyushu City, Japan

P35: Development of glaucoma after early cataract surgery in case of oculo-facio-cardio-dental syndrome

Pisuchpen, Phattrawan,Philadelphia, USA

P36: The Robison D. Harley, MD Childhood Glaucoma Research Network (CGRN) International Pediatric Glaucoma Registry

Foveal Hypoplasia

Chaudhuri, Zia, New Delhi, India

P37: Novel variant in SLC38A8 gene segregating with foveal hypoplasia in an autosomal recessive South Asian family

Dumitrescu, Alina, Iowa City, USA

P38: Genotype-Phenotype Correlation in Patients with Albinism

Kondo, Hiroyuki, Kitakyushu, Japan

P39: Correlation between genotype-phenotype in patients with autosomal dominant idiopathic foveal hypoplasia associated with PAX6 mutations

Kröll-Hermi, Ariane,Strasbourg, France

P40: Zebrafish, as a useful model to validate human eye candidate diseases genes.

15.30 h – 16.50 h

11. Session

Gene and Cell based Therapies

Chair: Knut Stieger, Volker Busskamp

15.30 h

Ader, Marius, Dresden, Germany

T32: Photoreceptor transplantation into the mammalian retina

15.50 h

Stieger, Knut, Giessen, Germany

T33: DNA repair mechanisms in photoreceptors

16.10 h

Busskamp, Volker,Dresden, Germany

T34: Forward programming of human stem cells to photoreceptors

16.30 h

Müller, Brigitte,Giessen, Germany

O31: DNA repair after ISce-I mediated DSB in photoreceptors and RPE cells following AAV mediated gene transfer in vivo

16.40 h

Wimmer, Tobias,Giessen, Germany

O32: A bioluminescence resonance energy transfer based sensor for the precise determination of non-homologous end joining DNA repair events

Associated Posters

Weller, Maria, Giessen,Germany

P42: First steps to a MMEJ genome editing approach correcting CLN3/Cln3^deltaEx7/8

16.50 h

Farewell

17.00 h

End of conference