Scientific Publications

Diagnosis and classification of optic neuritis

Professional(s) : Axel PETZOLD, Jérôme De Sèze, Marko Hawlina, Petra Liskova, Susana Noval, Paul Friedemann, Robert REJDAK, BERNARDO F. SANCHEZ DALMAU

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center ; Eye Hospital, University Medical Centre Ljubljana, Slovenia ; Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Hospital Universitario La Paz, Spain ; Charité - Universitätsmedizin Berlin, Germany ; Medical University of Lublin, Lublin, Poland ; Hospital Clinic De Barcelona, Spain

Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity

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)

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

Professional(s) : Katarina Stingl, Elfride DE BAERE, Susanne KOHL

Center(s) : Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Ghent University Hospital, Ghent, Belgium

Novel Clinical Observations and Genetic Spectrum in 340 Patients

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

Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?

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)

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

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)

Longitudinal Changes of Fixation Stability and Location Within 24 Months in Stargardt Disease: ProgStar Report No. 16

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)

Evaluation of Local Rod and Cone Function in Stargardt Disease

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)

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

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

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Professional(s) : Elfride DE BAERE, Bart LEROY

Center(s) : Ghent University Hospital, Ghent, Belgium

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