Scientific Publications

The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement

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

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)

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

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

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

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

Professional(s) : Bart LEROY, Hélène Dollfus

How to welcome visually impaired people to the hospital? Educational video for healthcare professionals

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

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