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Meeting of the International Society for Genetic Eye Diseases & Retinoblastoma ISGEDR
Ghent, Belgium
August 22 – 24, 2013
Welcome to Ghent and to Your Meeting … Dear Participant Allow us to wish you a very warm welcome to the wonderful city of Ghent for the 2013 Meeting of the ISGEDR. With a program filled to the brim with fantastic presentations, we are confident that you will find this meeting most stimulating. The scientific quality of the papers and posters given by the participants covers a broad spectrum of genetic eye disease and retinoblastoma. Mixed with the free papers, are a number of symposia and keynote lectures. In addition to the superb intellectual gems of the free papers and posters, the symposia and keynote lectures will most certainly update us on the latest developments in therapies for inherited retinal dystrophies, current concepts of fibrillinopathies and related disorders, recognition and management of seeding of retinoblastoma, genome-‐wide association studies, and how novel molecular genetic techniques influence current ophthalmic genetic practice. We are certain that you may also find the beauty of Ghent and its many cultural highlights a treat. In addition to lunch provided on site, other culinary delights include a Belgian beer tasting with assorted cheeses on Thursday evening, and a gala dinner on Saturday evening in Hôtel Falligan, the most important rococo building of Ghent, built in 1755. We hope you have a great ISGEDR 2013 Meeting! Bart P. Leroy, M.D., Ph.D. Meeting Chair, and Head of Local Organizing Committee David A. Mackey, M.D. President, ISGEDR Elias I. Traboulsi, M.D. Executive Vice-‐President, ISGEDR Brenda Gallie, M.D. Member, Scientific Program Committee Birgit Lorenz, M.D. Member, Scientific Program Committee
The International Society for Genetic Eye Diseases ISGEDR
Mission Statement
To bring together individuals interested in the field of genetic diseases of the eye and in Retinoblastoma
*** To provide a forum for researchers in the field of genetic diseases
of the eye to share information ***
To promote international collaborations in the study of genetic diseases of the eye and in Retinoblastoma
*** To disseminate scientific knowledge through international conferences
and through its official publication, Ophthalmic Genetics
The International Society for Genetic Eye Disease & Retinoblastoma wishes to thank the following sponsors who have generously supported the 2013 ISGEDR
Meeting
Platinum sponsor
Gold sponsors
Silver sponsor
Bronze sponsors
Sponsors
A Special Thank You
To four people without whom the ISGEDR 2013 Meeting wouldn't be what it is:
Mrs Sandy WONG, Cleveland, OH, USA Mrs Ingrid VERVENNE, Ghent, BELGIUM
Mrs Mayya TRABOULSI, Cleveland, OH, USA Mrs Véronique LEROY-‐DERVEAUX, Ghent, BELGIUM
Thursday August 22, 2013
9:00 -‐ 9:15 Welcome Dr. David MACKEY
Dr. Bart P. LEROY 9:15 -‐ 9:30 Official Opening Dr. Anne DE PAEPE
Geneticist & Rector-‐Elect Ghent University
9:30 -‐ 11:00 Genetics Session 1 Clinical Ophthalmic Genetics
Chairs: Birgit LORENZ & Elias I TRABOULSI
9:30 Autosomal recessive bestrophinopathy Rajani BATTU
Bangalore, India 9:42 Regulatory mutations in the 5'-‐UTR of
NMNAT1, cause Leber congenital amaurosis Frauke COPPIETERS, Ghent, Belgium
9:54 Adult-‐onset cone dystrophy associated with carboxyl RPGR mutations
Rola BA-‐ABBAD London, UK
10:06 Is the visual function seen in a child with lipemia retinalis reversible?
Hanna L SCANGA Pittsburgh, PA, USA
10:18 Benign yellow dot dystrophy Arundhati DEV BORMAN London, UK
10:30 Clinical findings in achromatopsia from PDEC mutations
Meghan MARINO Cleveland, USA
10:42 Characterization of photoreceptor structure in LCR-‐deletion associated blue cone monochromatism
Robert HUFNAGEL Cincinnati, OH, USA
10:54 Identification of concurrent PRPH2 & RP2 mutations within an apparent autosomal dominant pedigree: when are we done testing?
Dianne KH WHEATON Dallas, TX, USA
11:06 Copy number analysis of ABCA4 in Belgian patients with Stargardt disease reveals exon 20-‐22 deletion
Miriam BAUWENS Ghent, Belgium
11.18 The number of sequence variations detected in ABCA4 correlates with poorer VA in a cohort of Stargardt disease patients
Virginia UTZ Cleveland, OH, USA
11:20 -‐ 12:15 Break Poster Viewing
12:15 -‐ 13:00 Franceschetti Lecture: “Curing Inherited Blindness”
Dr. Edwin M STONE Iowa City, IA, USA Introduced by Dr. David MACKEY
13:00 -‐ 14:00 Lunch -‐ Provided on Site Poster Viewing
14:00 -‐ 15:48 Retinoblastoma Session 1 Diagnosis, Epidemiology & Genetics
Chairs: Brenda GALLIE & Ashwin REDDY
14:00 Retinoblastoma clinical research in Egypt: 5
years experience Ahmad S ALFAAR Cairo, Egypt
14:12 Reproductive behaviour of individuals with increased risk of having a child with retinoblastoma
Charlotte DOMMERING Amsterdam, The Netherlands
14:24 Molecular surveillance for metastatic retinoblastoma
Brenda GALLIE Toronto, Canada
14:36 Second non-‐ocular tumors among survivors of retinoblastoma treated with proton radiotherapy
Shizuo MUKAI Boston, MA, USA
14:48 Diagnostic performance of MRI and CT for retinoblastoma: a systematic review and meta-‐analysis
Marcus DE JONG Amsterdam, The Netherlands
15:00 Delay in the diagnosis of retinoblastoma in the UK: has anything changed in 2 decades?
Ashwin REDDY London, UK
15:12 Outcomes of intra-‐ and extra-‐ocular retinoblastomas from a single institute in South India
Parag SHAH Tamil Nadu, India
15:24 Eye cancer pathology in Kenya Helen DIMARAS Toronto, Canada
15:36 Detection of calcifications in RB using gradient-‐echo MR imaging sequences: comparative study between in vivo MR imaging and ex vivo high-‐resolution CT
Pim DE GRAAF Amsterdam, The Netherlands
15:48 The case for updating the International Intraocular retinoblastoma classification
A Linn Murphree, Los Angeles, CA, USA
16:00 -‐ 16:30 Break Poster Viewing
16:30 -‐ 18:42 Genetics Session 2 Anterior Segment, Glaucoma, Ocular Development & Syndromes
Chairs: Petra LISKOVA & Elise HEON
16:30 ADAMTS9 as a candidate gene in
pathogenesis of anterior segment dysgenesis Johane DUBAIL Cleveland, OH, USA
16:42 Expansion of the ocular phenotype caused by mutations in ADAMTS18
Gavin ARNO London, UK
16:54 Epithelial recurrent erosion dystrophy: a misnomer?
Walter LISCH Hanau, Germany
17:06 Homozygous mutations in PXDN cause congenital cataract, corneal opacity and developmental glaucoma
Kamron KHAN Leeds, UK
17:18 Non-‐selective assembly of fibrillin microfibrils in the rodent ocular zonule and in vitro: implications for Marfan syndrome
Lauren C BEENE Cleveland, OH, USA
17:30 Ocular features of microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) syndrome due to KIF1 mutations
Irina BALIKOVA Brussels, Belgium
17:42 Harboyan syndrome in a Czech proband caused by a novel homozygous nonsense mutation in SLC4A11
Petra LISKOVA Prague, Czech Republic
17:54 Brittle cornea syndrome: characetrisation of a retinal phenotype with relevance to common ocular disease
Louise PORTER Manchester, UK
18:06 Indentity-‐by-‐descent mapping and exome sequencing reveals new candidate gene for primary congenital glaucoma locus GLC3E
Hannah VERDIN Ghent, Belgium
18:18 Eye Developmental Anomalies and the Vitamin A pathway
Nicky RAGGE Oxford, UK
18:30 MSX2 gene duplication with eye development defect
Julie PLAISANCIE Strasbourg, France
18:45 -‐ 20:45 Belgian Beer Tasting Het Pand
Please note that this may not be a complete meal -‐ See list of restaurants
Friday August 23, 2013
08:30 -‐ 09:54 Genetics Session 3 Genetic Testing
Chairs: Frauke COPPIETERS & Lisa KEARNS
8:30 Search for New Genes in Autosomal
Recessive Retinitis Pigmentosa Nour-‐Al-‐Dain MARZOUKA Montpellier, France
8:42 Genetics of isolated unilateral retinoblastoma
Dietmar LOHMANN Duisburg-‐Essen, Germany
8:54 A novel approach to molecular diagnosis of retinoblastoma using next-‐generation sequencing and RB1 custom ACGH
Gemma D'ELIA Rome, Italy
9:06 The Role of Genetic Testing in Elucidating the Cause of Early Onset Horizontal Nystagmus (EOHN)
Joanne SUTHERLAND Toronto, Canada
9:18 Losing the "middle man" in genetic eye disease: the current scope of direct to consumer testing in ophthalmology
Lisa S KEARNS Melbourne, Australia
9:30 Next-‐generation sequencing panel to determine the real prevalence for gene defects underlying rod-‐cone dystrophies
Said EL SHAMIEH Paris, France
09.42 Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in inherited retinal dystrophies
Kristof VAN SCHIL Ghent, Belgium
09:55 -‐ 10:40 François Lecture: "Fibrillinopathies and related disorders -‐ Molecular considerations and ocular phenotypes"
Dr. Elias I TRABOULSI, Cleveland, OH, USA Introduced by Dr. Bart P. LEROY
10:40 -‐ 11:15 Break Poster Viewing
11:15 -‐ 13:00 Symposium: Update on Gene Therapy & Stem Cell Therapy for Retinal Dystrophies
Chairs: Mark PENNESI & Bart P LEROY
11:15 How do you deliver gene therapy to the eye? Albert M MAGUIRE
Philadelphia, PA, USA 11:30 Retinal dystrophies: defining new endpoints Birgit LORENZ
for therapeutic trials Giessen, Germany 11:45 Gene therapy for Leber congenital amaurosis Jean BENNETT
Philadelphia, PA, USA 12:00 Gene therapy for choroideraemia Alun Barnard
Oxford, UK 12:15 Gene therapy for Stargardt disease Isabelle AUDO
Paris, France 12:30 Gene therapy for Usher syndrome type 1B Mark PENNESI
Portland, OR, USA 12:45 Stem cell therapy for retinal dystrophies Mandeep SINGH
Oxford, UK
13:00 – 14:00 Lunch -‐ Provided on Site Poster Viewing
14:00 -‐ 14:30 Business Meeting of ISGEDR All Members David MACKEY Presiding
14:30 -‐ 15:00 Genetics Session 4 Therapy for retinal dystrophies
Chairs: Arlene DRACK & John G FLANNERY
14:30 AAV-‐RDCVF rescues cones and AAV-‐RDCVFL
protects rods in retinal degeneration John G FLANNERY Berkeley, CA, USA
14:45 Immunosuppressive therapy for retinal degeneration in Batten disease
Arlene DRACK Iowa City, IA, USA
15:00 -‐ 16:00 Symposium Genome Wide Association Studies (GWAS)
Chairs: Christopher HAMMOND & David MACKEY
15:00 Ophthalmic success with Genome Wide
Association Studies (GWAS) David MACKEY Perth, Australia
15:15 An international GWAS of Glaucoma-‐Related Optic Disc Parameters: the International Glaucoma Genetics Consortium
Henriët SPRINGELKAMP Rotterdam, The Netherlands
15:30 GWAS of refractive error Christopher HAMMOND London, UK
15:45 GWAS of central corneal thickness and keratoconus
Seyhan YAZAR Perth, Australia
16.00 -‐ 16.30 Break Poster Viewing
16.30 -‐ 17:54 Genetics Session 5 Multifactorial Genetics & Behavioural Studies
Chairs: Christopher HAMMOND & David MACKEY
16:30 Role of genetic loci implicated in diabetic
reinopathy risk Annie MCAULEY Melbourne, Australia
16:42 No evidence for differential IL17RC promoter methylation in age-‐related macular degeneration
Maria FRANCHINA Perth, Australia
16:54 Association of genetic risk for refractive error and time spent outdoors
Seyhan YAZAR Perth, Australia
17:06 Enrichment of pathogenic alleles in the brittle cornea gene ZNF469 provides novel insights into development of corneal thinning & keratoconus
Louise PORTER Manchester, UK
17:18 Description of intellectual, adaptive & behavioural function of patients with Bardet-‐Biedl syndrome: preliminary report
Elise HEON Toronto, Canada
17:30 -‐ 19.15 Poster session All authors required to stand by poster
19:15 -‐ bedtime
Free Evening in Ghent See list of restaurants
Saturday August 24, 2013
8:30 -‐ 09.54 Retinoblastoma Session 2 Treatment
Chairs: Ahmad S ALFAAR & Annette MOLL
8:30 Management of bilateral retinoblastoma
with chemoreduction and focal therapy Natalia MATTI Tijuana, Mexico
8:42 Focal treatment of retinoblastoma tumors with simultaneous 810nm and 532nm lasers
Ashwin MALLIPATNA Bangalore, India
8:54 Standard conservative approaches using systemic CT and local treatments: experience of the Institut Curie
Isabelle AERTS Paris, France
9:06 Management and outcome of 550 cases of retinoblastoma treated at a tertiary referral centre in India
Bhavna CHAWLA New Delhi, India
9:18 EBR therapy for retinoblastoma resistant to chemotherapy and focal therapy: outcome and predictive factors CANCELLED
Yacoub A YOUSEF Amman, Jordan
9:30 Trilateral retinoblastoma at the age of nine weeks
Vicktoria VISHNEVSKIA-‐DAI. Tel Aviv, Israel
9:42 Conservative treatment of advanced bilateral retinoblastoma: comparison of 1995-‐2003 to 2004-‐2009
Livia LUMBROSO-‐LE ROUIC Paris, France
09:55 -‐ 10:40 Ellsworth Lecture: "Seeding in retinoblastoma: recognition, management, and regression patterns"
Dr Francis MUNIER, Lausanne, Switzerland-‐ Introduced by Dr Brenda GALLIE
10:40 -‐ 11:30 Break Poster Viewing
11:30 -‐ 12:54 Retinoblastoma Session 3 Treatment & Miscellaneous
Chairs: Francis MUNIER & Hossam EL-‐ZOMOR
11:30 Intravitreal melphalan for retinoblastoma
with cloudy vitreous seeds Marie-‐Claire GAILLARD, Lausanne, Switzerland
11:42 Intra-‐arterial chemotherapy using multi-‐agent chemotherapy for treatment of recalcitrant intra-‐ocular retinoblastoma
Brian MARR New York, NY, USA
11:54 High-‐risk histopathologic features of Hossam EL-‐ZOMOR Cairo, Egypt
retinoblastoma in Egypt: treatment outcomes
12:06 Pathological findings of retinoblastoma in Egypt; implementing CAP protocol in developing countries
Hala TAHA Cairo, Egypt
12:18 Sodium iodide symporter is differentially expressed in retinoblastoma and correlates with the aggressiveness of tumors
Jaisy Samuel Tamil Nadu, India
12:30 Identification of most commonly used web-‐based search terms for leukocoria
Sandra E STAFFIERI Melbourne, Australia
12:42 High-‐resolution SNP array profiling identifies variability in retinoblastoma genome stability
Berber MOL
12:54 -‐ 14:00 Lunch -‐ Provided on Site Poster Viewing
14:00 -‐ 14:54 Genetics Session 6 Clinical & Diagnostic Aspects
Chairs: Birgit LORENZ & Arif O KHAN
14:00 Tuberous sclerosis -‐ why we need an
ophthalmic check-‐up Christina GERTH-‐KAHLERT -‐ Zürich, Switzerland
14:12 Color vision in Stargardt disease Tine VANDENBROUCKE, Ghent, Belgium
14:24 The phenotypic variability of retinal dystrophies associated with mutations in CRX
Sarah HULL London, UK
14:36 Pathognomonic retinal dysfunction and dystrophies in children
Arif O KHAN Riyadh, Saudi Arabia
14:48 Phenotype of RDH12-‐related early-‐onset retinal dystrophy
Julie DE ZAEYTIJD Ghent, Belgium
15:00 -‐ 16:30 Symposium “How will increasingly efficient genetic diagnostics impact your patients?”
• What needs to happen to take advantage of genetics?
• How are you using genetics in patient care now, and in 3 years?
• How will you determine the most cost-‐effective approach (timing, genes tested, clinical practice)?
Each speaker will address these questions in the context of their clinical expertise, fol-‐lowed by a panel discussion with opportunity for all to explore issues and opportunities of
Chairs: Elise HEON & Edwin M STONE
rapidly evolving new technologies.
14:55 Introduction to symposium + my experience, views, ideas & queries
Elise HEON, Toronto, Canada
15:00 My experience, views, ideas & queries Isabelle AUDO, Paris, France
15:05 My experience, views, ideas & queries Andrew WEBSTER/Anthony MOORE, London, UK
15:10 My experience, views, ideas & queries Arlene DRACK, Iowa City, IA, USA
15:15 My experience, views, ideas & queries Helen DIMARAS, Toronto, Canada
15:20 My experience, views, ideas & queries Bart P LEROY, Ghent, Belgium & Philadelphia, PA, USA
15:25 Panel Discussion 16:10 Questions Panellists
16:25 Chairperson Summary Elise HEON, Toronto,
Canada 16:30 -‐ 17:00 Break
Poster Viewing
**** PLEASE NOTE THAT THE FOLLOWING SESSION IS INTENDED FOR PATIENTS &
THEIR FAMILIES ****
17:00 -‐ 18:30 Belgian RP Patients Session Association Retina Pigmentosa -‐ Ophthalmic Genetics
Chairs: Viviane HALLET-‐TORDEURS & Bart P LEROY
17:00 Introduction Bart P LEROY
Ghent, Belgium & Philadelphia, PA, USA
17:05 Basics of Genetics Elias I TRABOULSI Cleveland, OH, USA
17:25 Update on Genetic Testing Edwin M STONE Iowa City, IA, USA
17:45 Using Genetic Tests in the Clinic Elise HEON Toronto, Canada
18:05 Update on Gene Therapy Jean BENNETT Philadelphia, PA, USA
18:25 Conclusions Bart P LEROY, Ghent Belgium & Philadelphia, PA, USA
19:30 -‐ bedtime Gala Dinner
All Registered Participants
Hotel Falligan Kouter, 172, 9000 Ghent
POSTERS Board # Title 1st author City, Country 1 A case of late presentation of
retinoblastoma Cristina SANTOS Amadora,
Portugal 2 Retinoblastoma, a review of
cases Inês COUTINHO Amadora,
Portugal 3 Knowledge of retinoblastoma
genetics in Canadian adult retinoblastoma survivors
Helen DIMARAS Toronto, Canada
4 Presentation of extra-‐ocular retinoblastoma in Egypt
Hossam EL-‐ZOMOR Cairo, Egypt
5 Expression of ABCG2, MCM2, embryonic stem cell markers and VEGF in retinoblastoma
Bhavna CHAWLA New Delhi, India
6 Subretinal gene therapy in Bardet-‐Biedl syndrome type I mice
Arlene DRACK Iowa City IA, USA
7 Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa
Juan Carlos ZENTENO Mexico City , Mexico
8 Homozygosity mapping identifies the CLN3 gene as responsible for a recessive form of retinitis pigmentosa
Beatriz BUENTELLO-‐VOLANTE
Mexico City , Mexico
9 Novel and known FRMD7 mutations in Belgian patients with X-‐linked idiopathic infantile nystagmus
Basamat AL-‐MOALLEM
Ghent, Belgium
10 Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa
Caroline VAN CAUWENBERGH
Ghent, Belgium
11 Variable phenotype in Enhanced S-‐Cone Syndrome
Barbara JANSSENS Ghent, Belgium
12 Ocular phenotype of Jalili syndrome
Sofie GEENS Ghent, Belgium
13 Ocular development and axial length in the bestrophino-‐pathies
Julie DE ZAEYTIJD Ghent, Belgium
14 Unilateral X-‐linked retinoschisis Michael RITZ Strasbourg, France
15 Genetic counselling remains challenging in Leber's optic
Valérie PELLETIER Strasbourg, France
neuropathy 16 Craniofrontonasal syndrome in
a male with sagittal craniosynostosis
Jacqueline HOOVER Pittsburgh, PA, USA