Trouble using our website?
Contact us
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 results of our study suggest that Sanger sequencing of the single-exon DNAJC30 gene should be a method of choice applied to identify a...
Professional(s) : Robert REJDAK, Katarzyna Nowomiejska
Center(s) : Medical University of Lublin, Lublin, Poland
Working group(s) : Retinal Rare Eye Diseases (WG1)
This is the first RPGR mutation screening in Poland showing a prevalence of 18% of RPGR pathogenic mutations and likely pathogenic variants in the...
Professional(s) : Katarzyna Nowomiejska, Robert REJDAK
Center(s) : Medical University of Lublin, Lublin, Poland
Working group(s) : Retinal Rare Eye Diseases (WG1)
Ten patients with Leber congenital amaurosis carrying the c.2991+1655A>G allele in the ciliopathy gene centrosomal protein 290 (CEP290) were...
Professional(s) : Bart LEROY
Center(s) : Ghent University Hospital, Ghent, Belgium
Working group(s) : Retinal Rare Eye Diseases (WG1)
RUSH2A longitudinal data will determine how these measures change with disease progression and whether they are useful for longitudinal studies in...
Professional(s) : Isabelle Audo, Katarina Stingl
Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Working group(s) : Retinal Rare Eye Diseases (WG1)
Leber congenital amaurosis associated with GUCY2D caused severe congenital visual impairment with relatively intact macular anatomy on funduscopy...
Professional(s) : Elfride DE BAERE, Alberta Thiadens, Ingeborgh VAN DEN BORN, Carel HOYNG, Bart LEROY, Camiel BOON
Center(s) : Ghent University Hospital, Ghent, Belgium ; Erasmus MC: University Medical Center Rotterdam, Netherlands ; The Rotterdam Eye Hospital, Rotterdam, Netherlands ; Radboud university medical center, Nijmegen, Netherlands ; Amsterdam University Medical Center / Leiden University Medical Center
Working group(s) : Retinal Rare Eye Diseases (WG1)
Using parsimonious assumptions, we reconstructed the composition and copy number of the OPN1LW/ OPN1MW gene cluster prior to the mutation event...
Professional(s) : Katarina Stingl, Isabelle Audo, Isabelle MEUNIER, Hélène Dollfus, Jaume Català Mora, Markus Preising, Eberhart Zrenner, Susanne KOHL
Center(s) : Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; CARGO, Hôpitaux Universitaires de Strasbourg, France ; Hospital Sant Joan de Déu, Spain ; Universitätsklinikum Gießen und Marburg GmbH, Gießen, Germany
The ERNs fully support the Ukrainian health professionals involved in rare diseases care and plea for a status to integrate the...
Professional(s) : Hélène Dollfus
Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France
This review will examine the increasing breadth and relevance of RNA-based therapies in clinical medicine, explore the key features that make AONs...
Professional(s) : Isabelle Audo, Bart LEROY, Katarina Stingl
Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Ghent University Hospital, Ghent, Belgium ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Working group(s) : Genetic Diagnostics (TWG6) , Retinal Rare Eye Diseases (WG1)
The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and...
Professional(s) : Elfride DE BAERE
Center(s) : Ghent University Hospital, Ghent, Belgium
Working group(s) : Genetic Diagnostics (TWG6)
There is no consensus regarding the classification of optic neuritis, and precise diagnostic criteria are not...
Professional(s) : Axel PETZOLD, Jérôme De Sèze, Marko Hawlina, Petra Liskova, Susana Noval, Paul Friedemann, Robert REJDAK, BERNARDO F. SANCHEZ DALMAU
Center(s) : Amsterdam University Medical Center / Leiden University Medical Center ; Eye Hospital, University Medical Centre Ljubljana, Slovenia ; Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Hospital Universitario La Paz, Spain ; Charité - Universitätsmedizin Berlin, Germany ; Medical University of Lublin, Lublin, Poland ; Hospital Clinic De Barcelona, Spain
Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)
