Scientific Publications

Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series

Professional(s) : Sara Bargiacchi, Pina Fortunato, Andrea SODI, Elfride DE BAERE, Christina Zeitz, Bart LEROY, Giacomo Maria Bacci

Center(s) : AOU Careggi - AOU Meyer Consortium, Firenze, Italy ; Ghent University Hospital, Ghent, Belgium ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Genetic and Clinical Characterization of Danish Achromatopsia Patients

Professional(s) : Line Kessel, Susanne KOHL

Center(s) : Rigshospitalet, Copenhagen, Denmark ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany

Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force

Center(s) : Hospital Clinico Universitario de Valladolid, Spain

Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey

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)

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net

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)

Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey

Professional(s) : Hélène Dollfus

Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

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)

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

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)

Central serous chorioretinopathy: Towards an evidence-based treatment guideline

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

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

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)