Scientific Publications
You’ll find on this page scientific publications from ERN-EYE members from 2019.
As a reminder, publications should be PubMed accredited scientific journals and involve as major contributors Health Care Providers from at least two different Member States within ERN-EYE, and which include an explicit acknowledgement of ERN-EYE such as “This work is generated/supported within the European Reference Network for Rare Eye Diseases ERN-EYE”.
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in...
Professional(s) : Andrea SODI, Bart LEROY, Petra Liskova, Artur Klett, Susanne KOHL, Lonneke HAER-WIGMAN, Katarzyna Nowomiejska, João Pedro Marques, Frans Cremers, Elfride DE BAERE, Hélène Dollfus
Center(s) : AOU Careggi - AOU Meyer Consortium, Firenze, Italy ; Ghent University Hospital, Ghent, Belgium ; Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; East-Tallinn Central Hospital Eye Clinic, Tallinn, Estonia ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Radboud university medical center, Nijmegen, Netherlands ; Medical University of Lublin, Lublin, Poland ; Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal ; CARGO, Hôpitaux Universitaires de Strasbourg, France
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
A comprehensive study applying direct Sanger sequencing of the gene‐coding regions, exome and genome sequencing applied to a large cohort of...
Professional(s) : Christina Zeitz, Markus Preising, Elfride DE BAERE, Bart LEROY, Ingele Casteels, Hélène Dollfus, Isabelle MEUNIER, Susanne KOHL, José-Alain Sahel, Isabelle Audo
Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Universitätsklinikum Gießen und Marburg GmbH, Gießen, Germany ; Ghent University Hospital, Ghent, Belgium ; University Hospitals Leuven, Belgium ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; CARGO, Hôpitaux Universitaires de Strasbourg, France ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS)
We performed a Delphi consensus process to develop a consistent and refined definition of PHOMS with clear principles around the nature of PHOMS...
Professional(s) : Axel PETZOLD, Jette Lautrup Battistini, Katarzyna Nowomiejska, Robert REJDAK, Petra Liskova, Valérie Touitou, Steffen HAMANN
Center(s) : Amsterdam University Medical Center / Leiden University Medical Center ; Rigshospitalet, Copenhagen, Denmark ; Medical University of Lublin, Lublin, Poland ; Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; OPHTARA - Hôpital Pitié-Salpêtrière, Paris, France
Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)
Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants
The aim of this study was to report PAX6 disease-causing variants in six Czech families, to describe the associated phenotypes, and to perform...
Professional(s) : Petra Liskova
Center(s) : Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic
Working group(s) : Anterior Segment Rare Eye Diseases (WG4)
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia,...
Professional(s) : Isabelle Audo, Ingele Casteels, Line Kessel, Isabelle MEUNIER, Katarina Stingl, Susanne KOHL
Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; University Hospitals Leuven, Belgium ; Rigshospitalet, Copenhagen, Denmark ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Working group(s) : Retinal Rare Eye Diseases (WG1)
Keratoconus in Children: A Literature Review
This review discusses the main aspects of pediatric keratoconus (KC) based on the current evidence to propose a guideline for helping early...
Professional(s) : Luca Buzzonetti, Petra Liskova, Daniel Böhringer
Center(s) : Bambino Gesù Children's Hospital, Roma, Italy ; Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Eye Center, University Hospital Freiburg, Germany
Working group(s) : Anterior Segment Rare Eye Diseases (WG4)
Hydroxychloroquine hitting the headlines – retinal considerations
In this editorial, we highlight the importance of careful use of these drugs, because of their potential to cause an irreversible toxic...
Professional(s) : Bart LEROY, Hélène Dollfus
How to welcome visually impaired people to the hospital? Educational video for healthcare professionals
The video deals with common situations in the delivery of care activities: different types of visual impairment, reception in a hospital center,...
Professional(s) : Hélène Dollfus, Caroline Wernert-Iberg
Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France
ERN‑EYE GOOD PRACTICES SERIES: Do’s and don’ts on Usher Syndrome
The leaflet is divided in several parts: clinical manifestation, identified genes, progression of the disease through the years and do’s and...
Professional(s) : Isabelle Audo, Caroline Wernert-Iberg, Dominique Sturz, Hélène Dollfus
Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; CARGO, Hôpitaux Universitaires de Strasbourg, France
Working group(s) : Epag