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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”.
In this cross-sectional study, 1,619 ABCA4 variants from 5,579 individuals with STGD1 were collected and...
Professional(s) : Elfride DE BAERE, Lonneke HAER-WIGMAN, Frans Cremers
Center(s) : Ghent University Hospital, Ghent, Belgium ; Radboud university medical center, Nijmegen, Netherlands
Working group(s) : Retinal Rare Eye Diseases (WG1)
Patients carrying the novel L-I-V-V-A haplotype presented with a mild form of Blue Cone Monochromacy or Bornholm Eye Disease-like phenotype with...
Professional(s) : Katarina Stingl, Elfride DE BAERE, Susanne KOHL
Center(s) : Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Ghent University Hospital, Ghent, Belgium
In most patients, XLRS showed a slow deterioration starting in the second decade of life, suggesting an optimal window of opportunity for...
Professional(s) : Alberta Thiadens, Elfride DE BAERE, Ingeborgh VAN DEN BORN, Carel HOYNG, Bart LEROY, Camiel BOON
Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands ; Ghent University Hospital, Ghent, Belgium ; The Rotterdam Eye Hospital, Rotterdam, Netherlands ; Radboud university medical center, Nijmegen, Netherlands ; Amsterdam University Medical Center / Leiden University Medical Center
MRI is the gold standard to confirm congenital corneal anesthesia and to differentiate from other possible neurotrophic keratitis...
Professional(s) : Hélène Dollfus, Arvydas GELZINIS, Reda ZEMAITIENE, Agne KRUCAITE, Luca Buzzonetti
Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France ; Hospital of Lithuanian University of Health Sciences, Kauno Klinikos, Kaunas, Lithuania ; Bambino Gesù Children's Hospital, Roma, Italy
Working group(s) : Anterior Segment Rare Eye Diseases (WG4)
Van de Sompele et al. used multiomics profiling and in vitro and in vivo enhancer assays to dissect the regulatory mechanisms underlying North...
Professional(s) : Petra Liskova, Elfride DE BAERE, Camiel BOON, Bart LEROY, Bohdan Kousal
Center(s) : Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Amsterdam University Medical Center / Leiden University Medical Center ; Ghent University Hospital, Ghent, Belgium
Working group(s) : Retinal Rare Eye Diseases (WG1)
Fixation parameters are unlikely to be sensitive outcome measures for clinical trials in STGD1 but may provide useful ancillary information in...
Professional(s) : Eberhart Zrenner, Rupert STRAUSS
Center(s) : Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Department of ophthalmology, Kepler University Clinic Linz, Linz, Austria
Working group(s) : Retinal Rare Eye Diseases (WG1)
The functional analysis of the macular region in STGD1 disease indicates reduced central cone function, corresponding to photoreceptor...
Professional(s) : Krunoslav Stingl, Carel HOYNG, Melanie Kempf, Susanne KOHL, Ronja Jung, Laura Kühlewein, Katarina Stingl
Center(s) : Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Radboud university medical center, Nijmegen, Netherlands
Working group(s) : Retinal Rare Eye Diseases (WG1)
We provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to...
Professional(s) : Isabelle Audo, Jaume Català Mora, Elfride DE BAERE, Hélène Dollfus, Petra Liskova, Isabelle MEUNIER, Ditta Zobor, Katarina Stingl, Susanne KOHL
Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Hospital Sant Joan de Déu, Spain ; Ghent University Hospital, Ghent, Belgium ; CARGO, Hôpitaux Universitaires de Strasbourg, France ; Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; Department of Ophthalmology Semmelweis University, Budapest, Hungary
We describe both phenotype and pathogenesis in two male siblings with typical retinitis pigmentosa (RP) and the potentially X-linked RP (XLRP)...
Professional(s) : Elfride DE BAERE, Bart LEROY
Center(s) : Ghent University Hospital, Ghent, Belgium
Working group(s) : Retinal Rare Eye Diseases (WG1)
