Meeting of the International Society for Genetic Eye Diseases & Retinoblastoma ISGEDR
Ghent, Belgium
August 22 – 24, 2013
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 eyeto share information ***
To promote international collaborations in the study of genetic diseases of the eyeand in Retinoblastoma
*** To disseminate scientific knowledge through international conferences
and through its official publication, Ophthalmic Genetics
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 Squint as a presenting feature in retinoblastoma
Ashwin REDDY London, UK
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: PetraLISKOVA & 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 Ghent, 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 no food will be served ‐ 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 for therapeutic trials
Birgit LORENZ 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 Reproductive behaviour of individuals with increased risk of having a child with retinoblastoma
Charlotte DOMMERING Amsterdam, The Netherlands
17:42 ‐ 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& Marcus DE JONG
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
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 Intravitrealmelphalan for retinoblastoma with cloudy vitreous seeds
Marie‐Claire GAILLARD, Lausanne, Switzerland
11:42 Intra‐arterial chemotherapy using multi‐agent chemotherapy for treatment of recalcitrant
Brian MARR New York, NY, USA
intra‐ocular retinoblastoma
11:54 High‐risk histopathologic features of retinoblastoma in Egypt: treatment outcomes
Hossam EL‐ZOMOR Cairo, Egypt
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)?
Chairs: Brenda GALLIE & Edwin M STONE
Each speaker will address these questions in the context of their clinical expertise, followed by a panel discussion with opportunity for all to explore issues and opportunities of rapidly evolving new technologies.
14:55 Introduction to symposium + my experience, views, ideas & queries
Elise HEON, Toronto, Canada
15:10 My experience, views, ideas & queries Isabelle AUDO, Paris, France
15:20 My experience, views, ideas & queries Andrew WEBSTER/Anthony MOORE, London, UK
15:30 My experience, views, ideas & queries Arlene DRACK, Iowa City, IA, USA
15:40 My experience, views, ideas & queries Helen DIMARAS, Toronto, Canada
15:50 My experience, views, ideas & queries Bart P LEROY, Ghent, Belgium & Philadelphia, PA, USA
16:00 Panel Discussion Panelists
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 ‐ ON 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 bestophinopathies
Julie DE ZAEYTIJD Ghent, Belgium
14 Unilateral X‐linked retinoschisis Michael RITZ Strasbourg, France
15 Retinal histopathology in eyes from patients with autosomal recessive retinitis pigmentosa caused by eys mutations
Gayle PAUER Cleveland, USA
16 Genetic counselling remains challenging in Leber's optic neuropathy
Valérie PELLETIER Strasbourg, France
17 Craniofrontonasal syndrome in a male with sagittal craniosynostosis
Jacqueline HOOVER Pittsburgh, PA, USA
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