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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”.
Although a clear genotype-phenotype correlation can still not be concluded, there may be differences in phenotypical characteristics with variants...
Professional(s) : Line Kessel, Susanne KOHL
Center(s) : Rigshospitalet, Copenhagen, Denmark ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Through this analysis, the Task Force identified key elements that should support both developing and established clinical research networks for...
Center(s) : Hospital Clinico Universitario de Valladolid, Spain
An electronic survey questionnaire with 48 questions specifically addressing RPE65-IRD (2019 survey 35) was developed and sent by June 2021 to 95...
Professional(s) : Hélène Dollfus, João Pedro Marques, Elisabetta PILOTTO, Ingeborgh VAN DEN BORN, Katarina Stingl
Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France ; Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal ; University Hospital of Padova, Padova, Italy ; The Rotterdam Eye Hospital, Rotterdam, Netherlands ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Working group(s) : Retinal Rare Eye Diseases (WG1)
This second multinational survey on management of IRDs in Europe highlights persistent important differences in the number of IRD patients managed...
Professional(s) : João Pedro Marques, Elisabetta PILOTTO, Katarina Stingl, Hélène Dollfus
Center(s) : Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal ; University Hospital of Padova, Padova, Italy ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; CARGO, Hôpitaux Universitaires de Strasbourg, France
Working group(s) : Retinal Rare Eye Diseases (WG1)
This survey provides information on the current difficulties in the care of PMDs in...
Professional(s) : Hélène Dollfus
Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France
Here, we present the outcome for 1,192 probands that underwent smMIPs-based sequencing using the RP-LCA smMIPs...
Professional(s) : Elfride DE BAERE, Bart LEROY, Isabelle MEUNIER, Francesca Simonelli, Alberta Thiadens, Frans Cremers
Center(s) : Ghent University Hospital, Ghent, Belgium ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy ; Erasmus MC: University Medical Center Rotterdam, Netherlands ; Radboud university medical center, Nijmegen, Netherlands
Working group(s) : Retinal Rare Eye Diseases (WG1)
We found that homozygosity for a truncating variant in CEP162, a centrosome and microtubule-associated protein required for transition zone...
Professional(s) : Elfride DE BAERE, Anne-Françoise Roux
Center(s) : Ghent University Hospital, Ghent, Belgium ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France
Working group(s) : Genetic Diagnostics (TWG6)
To date, no consensus has been reached regarding the classification of CSC, and a wide variety of interventions have been proposed, reflecting the...
Professional(s) : Suzanne Yzer, Carel HOYNG, Camiel BOON, Michael LARSEN
Center(s) : Radboud university medical center, Nijmegen, Netherlands ; Amsterdam University Medical Center / Leiden University Medical Center ; Rigshospitalet, Copenhagen, Denmark
To investigate the natural history in patients with LRAT-associated retinal degenerations (RDs), in the advent of clinical trials testing...
Professional(s) : Elfride DE BAERE, Bart LEROY, Camiel BOON
Center(s) : Ghent University Hospital, Ghent, Belgium ; Amsterdam University Medical Center / Leiden University Medical Center
Working group(s) : Genetic Diagnostics (TWG6) , Retinal Rare Eye Diseases (WG1)
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
