Wills Eye Hospital, Philadelphia, Pennsylvania

Nicholas BELLO

A Multicentric Longitudinal Natural History Study of Usher Syndrome due to Mutations in the MYO7A gene: Preliminary Results in the Italian Cohort

University of Campania Luigi Vanvitelli

Valentina DI LORIO

Natural history study of visual function in patients with BBS1- and BBS10-related retinal degeneration.

The Hospital for Sick Children and University of Toronto, Toronto, Canada

Monika Grudzinska Pechhacker

Aristotle University of Thessaloniki, Thessaloniki, Greece.

Asimina Mataftsi

Genetic and Clinical Characteristics of Slovenian Patients with RPGR-Associated Retinal Disorders

Eye Hospital, University Eye Hospital Ljubljana, Slovenia

Viasta Hadalin and Maša Buscarino

Genotype-Phenotype Correlation and Disease Modeling in RPGR-Related Retinal Dystrophies

Sorbonne Université, IInstitut de la Vision, Paris, France

Marco NASSISI

Deep analysis of WGS data, strategy and algorithms

Sorbonne Université, IInstitut de la Vision, Paris, France

Julien NAVARRO

Natural History of Retinal Degeneration Associated With a Founder Mutation in the PDE6B Gene

University of Auckland, Auckland, New Zealand

Andrea VINCENT

Phenotype variability associated with mutations in the POC1B gene

University Hospital Zurich, University of Zurich, Zurich, Switzerland

Christina Gerth-Kahlert

Phenotypic and Molecular Characterization of Ocular and Systemic Features of DDX58-Related Singleton-Merten Syndrome.

University of Michigan

Lev PRASOV

Insights from Imaging PRPH2 Phenotypes West Coast Retina Gp.

Vanderbilt Eye Institute

Anita AGARWAL

Association Between Phenotype and Serum Concentration of Vitamin A in Patients With P.G90D Variant in Rhodopsin Gene

Eye Hospital, University Clinical Center Ljubljana

Tjaša KRASOVEC

Manifestation of Retinal Dystrophy in a child with TCIRG1-related Autosomal Recessive Osteopetrosis

Washington University School of Medicine, St. Louis MO

Hosannah EVIE

CHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, F-75012 Paris, France

Anaïs GRIMAUD

USH2A Variants Spectrum in a French Cohort

Sorbonne Université, IInstitut de la Vision, Paris, France

Luiza Neves

SCLT1-related disease as a rare cause of cone dystrophy with subtle systemic associations resembling ciliopathy.

St Erik Eye Hospital and Karolinska Institutet, Stockholm, Sweden

Monika Grudzinska Pechhacker

Spectrum of Mutations in 11 Choroideremia Czech Patients

Charles University and the General University Hospital, Prague

Monika CHYLOVA

High-resolution Retinal Imaging Analysis of Patients with Autosomal Dominant Retinitis Pigmentosa Caused by HK1 Mutation

Nippon Medical School, Chiba Hokusoh Hospital, Japan

Kiyoko GOCHO

Optic nerve involvement in CACNA1F phenotype: observations in a multicentric case series

AOU Meyer Childrens’ Hospital, Florence

Giacomo Maria Bacci

Charles University and General University Hospital, Prague, Czech Republic

Marie Vajter

Phenotype and Genotype of Inherited Retinal Disorders in Democratic Republic of Congo (DRC)

University of Kinshasa

Nadine NSIANGANI

Aristotle University of Thessaloniki, Thessaloniki, Greece

Evangelia PANAGIOTOU

Congenital Stationary Night Blindness in a Patient with Mild Learning Disability due to a Compound Heterozygous Microdeletion of 15q13 and a Missense Mutation in TRPM1

University Hospitals Leuven

Irina Balikova

A Novel TGFBI Gene Mutation Associated with a Deep Stromal Phenotype and Late-Onset Lattice Dystrophy in a French Family

Hôpital Jules Gonin, Université de Lausanne, Lausanne.

Aleksandra PETROVIC

Clinique Jules Verne, Route de Paris 44300 NANTES

Marine SOURDRIL

A case of early-onset retinal dystrophy associated with NEK1 gene mutations in siblings

Hamamatsu University School of Medicine

Akiko HIKOYA

A novel GUCY2D missense mutation in a patient with Leber congenital amaurosis

Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh, India

Savleen KAUR

A Patient with a Mild Clinical Presentation of Joubert Syndrome due to Biallelic MKS1 Truncating Mutations

University of Campania Luigi Vanvitelli, Viale Abramo Lincoln, 5, 81100 Caserta CE, Italy

Raffaella BRUNETTI-PIERRI

King Hussein Cancer Center, Amman, Jordan

Mona Mohammad

Different melphalan intravitreal dose in combined retinoblastoma polychemotherapy

National Academy of Medical Sciences of Ukraine, Kyiv, Ukraine

Nadiia Bobrova

The Role of Three-component Selective Intra-arterial Chemotherapy in the Failure of Standard Organ-preserving Treatment in Children with Intraocular Retinoblastoma

National Medical Research Centre of Oncology, Moscow, Russia

Tatiana Ushakova

Hospital CHUV, Lausanne, Switzerland

Maja Beck Popovic and Bastien Marti

Comparision of Efficacy and Side-effects of Two Different Eye-preserving Systemic Chemotherapy Regimens in Children with Retinoblastoma

Department of Pediatric Hematology and Oncology, University Hospital Essen, Germany

Petra Ketteler

Transpupillary Thermotherapy in Children with Retinoblastoma: Long-Term Results

National Medical Research Center Academician, Moscow, Russia

Denis Volodin

Safety and Efficacy of Pars Plana Vitrectomy in Management of Rhegmatogenous Retinal Detachments with Posterior Breaks Occurring During Management of Active Retinoblastoma

Aravind Eye Hospital, Coimbatore, Tamil Nadu, India

Shah Parag

Advances in Treatment of Bilateral Retinoblastoma: 26-year Experience

Istanbul University, Oncology Institute, Pediatric Hematology-Oncology

Rejin Kebudi

Advanced Unilateral Retinoblastoma: Proposal for European Standard Clinical Practice Guidelines (ERN PaedCan / EuRbG Working Group 2)

Institut Curie, Paris & Jules-Gonin Eye Hospital, Lausanne

Alexandre Matet

Evaluation Of Screening Protocol Used For Children At Risk For Familial Retinoblastoma: Dutch Retrospective Population Based Cohort Study

Amsterdam UMC, location VUMC, dept of Ophthalmology

Nara Badalova

Updating and Evaluating Adherence to Standard Operating Procedures in the Retinoblastoma Pathway of Care

The Hospital for Sick Children, Toronto, Canada

Aaditeya Jhaveri

Extended Surgical Interventions in Children with Retinoblastoma Invasion into the Optic Nerve

National Medical Research Centre of Oncology, Moscow, Russia

Tatiana Ushakova

Enucleation using high frequency electric welding in high risk retinoblastoma

National Academy of Medical Sciences of Ukraine, Kyiv, Ukraine

Nadiia Bobrova

Readability, Suitability, and Quality of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options

Emory University School of Medicine, Children’s Healthcare of Atlanta

Stacy Partin

ERN-EYE, Latest Advances of the Network to Better Serve Patients’ Needs

ERN-EYE coordination, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

Dorothée Leroux

Progressive Bilateral Nuclear Cataracts Associated with Cerebellar-Facial-Dental Syndrome: a Case Report, Literature Review and Identification of a New Genetic Variant

Creighton University School of Medicine, Omaha, Nebraska, USA

James Plotnik /Brianna Pandey

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia

Federal University of São Paulo (UNIFESP), Brazil

Olivia Zin

Congenital Corneal Opacification in 22q Deletion Syndrome

UPMC Children’s Hospital of Pittsburgh

Ken Nischal

The Retinoic Acid Pathway and Developmental Eye Anomalies: Expanding the Genetic and Phenotypic Spectra

Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy 

Fabiola Ceroni

Confirmation of n.37C>T in MIR204 as a cause of retinal dystrophy, iris coloboma and cataract

Charles University, Prague, Czech Republic

Jana Moravíková

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: From the Clinic to Genetics

Institut national de la santé et de la recherche médicale (INSERM), Paris, France

Beatrice BOCQUET

University of Auckland and Greenlane Clinical Centre, Auckland, NZ

Sarah HULL