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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”.
These guidelines are addressed to: a) specialist centres, other hospital-based medical teams and staffs involved with the care of ALMS patients,...
Professional(s) : Hélène Dollfus
Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France ; University Hospital of Padova, Padova, Italy
To describe the ocular findings of 12 subjects with paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance...
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)
To our knowledge, this is the first effort of such scale to provide terminology standards for the rare eye disease...
Professional(s) : Hélène Dollfus
Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France
In this opinion piece, we have reviewed published evidence on the use of corticosteroids for the treatment of...
Professional(s) : Axel PETZOLD, Russell Wheeler
Center(s) : Amsterdam University Medical Center / Leiden University Medical Center
Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)
The largest and most robust differences between the eyes of people with multiple sclerosis and control eyes were found in the peripapillary RNFL...
Professional(s) : Axel PETZOLD, Paul Friedemann
Center(s) : Amsterdam University Medical Center / Leiden University Medical Center ; Charité - Universitätsmedizin Berlin, Germany
Working group(s) : Retinal Rare Eye Diseases (WG1)
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal...
Professional(s) : Elfride DE BAERE, Susanne KOHL
Center(s) : Ghent University Hospital, Ghent, Belgium ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Working group(s) : Genetic Diagnostics (TWG6) , Research (TWG8)
To identify the molecular genetic cause in four families of various ethnic backgrounds with cornea...
Professional(s) : Petra Liskova, Bart LEROY
Center(s) : Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Ghent University Hospital, Ghent, Belgium
Working group(s) : Anterior Segment Rare Eye Diseases (WG4)
The aim of this study was to identify the molecular genetic cause of disease in posterior polymorphous corneal dystrophy (PPCD) probands of...
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)
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2,...
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)
The genotyping analysis identified combined genetic variants of thrombophilia in each patient. Mutations for MTHFR (C677T) and GPIIIa PlA1/A2 were...
Professional(s) : Dominique BREMOND-GIGNAC, Alejandra Daruich-Matet, Katarzyna Nowomiejska, Robert REJDAK
Center(s) : OPHTARA - AP-HP, Hôpital Necker-Enfants Malades, Paris, France ; Medical University of Lublin, Lublin, Poland
Working group(s) : Pediatric Ophthalmology Rare Diseases (WG3)
