| 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 |
| 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 |
| 15:25 |
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 |
| 16:30 |
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 |
| 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 |
| 9:42 |
Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in inherited retinal dystrophies |
Kristof VAN SCHIL
Ghent, Belgium |
| 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 |
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 |
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 |
Henriet 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 |
| 16:30 |
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 |
| 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 |
| 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 intra-ocular retinoblastoma |
Brian MARR
New York, NY, USA |
| 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 |
High-resolution SNP array profiling identifies variability in retinoblastoma genome stability |
Sandra E STAFFIERI
Melbourne, Australia |
| 12:42 |
High-resolution SNP array profiling identifies variability in retinoblastoma genome stability |
Berber MOL |
| 14:00 |
Tuberous sclerosis - why we need an ophthalmic check-up |
Christina GERTH-KAHLERT Zurich, 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 |
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, followed by a panel discussion with opportunity for all to explore issues and opportunities of rapidly evolving new technologies.
- Elise HEON, Toronto, Canada
- Isabelle AUDO, Paris, France
- Andrew WEBSTER/Anthony MOORE, London, UK
- Arlene DRACK, Iowa City, IA, USA
- Helen DIMARAS, Toronto, Canada
- Bart P LEROY, Ghent, Belgium & Philadelphia, PA, USA
Секция конференции "генетические глазные заболевания" для пациентов и их семей
| 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 |
http://www.clevelandclinicmeded.com/live/courses/isgedr13/agenda.asp
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