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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

Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies

Professional(s) : Camiel BOON

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center

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

Syndromic Retinitis Pigmentosa

Professional(s) : Camiel BOON, Carel HOYNG, Bart LEROY

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center ; Radboud university medical center, Nijmegen, Netherlands ; Ghent University Hospital, Ghent, Belgium

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

Editorial

Therapies for Inherited Retinal Dystrophies: What is Enough?

Professional(s) : Bart LEROY, Hélène Dollfus, José-Alain Sahel

Center(s) : Ghent University Hospital, Ghent, Belgium ; CARGO, Hôpitaux Universitaires de Strasbourg, France ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

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

Guideline CCS

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Professional(s) : Giacomo Maria Bacci, Hélène Dollfus, Amélie Gavard, Monika Grudzinska Pechhacker, Bart LEROY, Francesca Simonelli, Francesco Testa

Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France ; Ghent University Hospital, Ghent, Belgium ; AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy ; AOU Careggi - AOU Meyer Consortium, Firenze, Italy

ADhoc–An immersive serious game that raises awareness among healthcare professionals about announcing a diagnosis of rare diseases

Professional(s) : Hélène Dollfus, Catherine Vignal-Clermont, Caroline Wernert-Iberg, Russell Wheeler

Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Study results

Residual Attention Network for distinction between visible optic disc drusen and healthy optic discs

In this study the authors propose a new solution for distinguish healthy cases and those with optic disc drusen (ODD) utilizing Residual Attention...

Professional(s) : Katarzyna Nowomiejska, Reda ZEMAITIENE, Robert REJDAK

Center(s) : Medical University of Lublin, Lublin, Poland ; Hospital of Lithuanian University of Health Sciences, Kauno Klinikos, Kaunas, Lithuania

Study results

Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis

Young people could be spared from going blind by a new genetic risk tool that could also help diagnose multiple sclerosis (MS) earlier, to start...

Professional(s) : Axel PETZOLD

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center

Study results

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation

We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the...

Professional(s) : Petra Liskova, Bohdan Kousal

Center(s) : Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic

Study results

Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy

In EYS-related disease, the RP-SSS showed advanced severity at a relative early age and was correlated with the central area of the...

Professional(s) : Benedetto Falsini

Center(s) : Fondazione Policlinico Universitario A. Gemelli - Roma, Italy

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

Shedding light on myopia by studying complete congenital stationary night blindness

The results provide a foundation to guide the development of pharmacological myopia...

Professional(s) : Christina Zeitz, Isabelle Audo, José-Alain Sahel

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

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