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Scientific Publications

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”.

Study results

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

Professional(s) : Christina Zeitz, Markus Preising, Bart LEROY, Elfride DE BAERE, Katarina Stingl, Susanne KOHL, Isabelle MEUNIER, Hélène Dollfus, Ingele Casteels

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Universitätsklinikum Gießen und Marburg GmbH, Gießen, Germany ; Ghent University Hospital, Ghent, Belgium ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; CARGO, Hôpitaux Universitaires de Strasbourg, France ; University Hospitals Leuven, Belgium

Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study

Professional(s) : Camiel BOON, Ingeborgh VAN DEN BORN, Carel HOYNG, Alberta Thiadens

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center ; The Rotterdam Eye Hospital, Rotterdam, Netherlands ; Radboud university medical center, Nijmegen, Netherlands ; Erasmus MC: University Medical Center Rotterdam, Netherlands

Working group(s) : Retinal Rare Eye Diseases (WG1)

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis

Professional(s) : Alberta Thiadens, Ingeborgh VAN DEN BORN

Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands ; The Rotterdam Eye Hospital, Rotterdam, Netherlands

Working group(s) : Retinal Rare Eye Diseases (WG1)

Somatostatin analogues as a treatment option for cystoid maculopathy in retinitis pigmentosa

Professional(s) : Alberta Thiadens, Ingeborgh VAN DEN BORN

Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands ; The Rotterdam Eye Hospital, Rotterdam, Netherlands

Working group(s) : Retinal Rare Eye Diseases (WG1)

Progression Rate of Macular Retinal Pigment Epithelium Atrophy in Geographic Atrophy and Selected Inherited Retinal Dystrophies. A Systematic Review and Meta-Analysis

Professional(s) : Alberta Thiadens

Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium

Professional(s) : Alberta Thiadens

Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands

Working group(s) : Retinal Rare Eye Diseases (WG1)

Study results

Acute retinal pigment epitheliitis using adaptive optics imaging: a case report

Professional(s) : Alberta Thiadens

Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands

Study results

CNN-Based Device-Agnostic Feature Extraction From ONH OCT Scans

Professional(s) : Alberta Thiadens

Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands

Study results

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

Professional(s) : Francesca Simonelli, Francesco Testa, Ingeborgh VAN DEN BORN

Center(s) : AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy ; The Rotterdam Eye Hospital, Rotterdam, Netherlands

Working group(s) : Retinal Rare Eye Diseases (WG1)

Study results

Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute

Professional(s) : Elfride DE BAERE, Bart LEROY, Isabelle Audo, Christina Zeitz, Katarina Stingl, Camiel BOON, João Pedro Marques

Center(s) : Ghent University Hospital, Ghent, Belgium ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Amsterdam University Medical Center / Leiden University Medical Center ; Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal