Scientific Publications

Role of Computer-Assisted Surgery in the Management of Pediatric Orbital Tumors: Insights from a Leading Referral Center

Professional(s) : Susana Noval

Center(s) : Hospital Universitario La Paz, Spain

Working group(s) : Pediatric Ophthalmology Rare Diseases (WG3)

Correlation between quality of vision and clinical and structural parameters in patients with Autosomal Dominant Optic Atrophy

Professional(s) : BERNARDO F. SANCHEZ DALMAU

Center(s) : Hospital Clinic De Barcelona, Spain

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

Comorbidities Are Associated With Unfavorable Outcome in Aquaporin-4 Antibody Positive Neuromyelitis Optica Spectrum Disorders and Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease: Exploratory Study From the CROCTINO Cohort

Professional(s) : BERNARDO F. SANCHEZ DALMAU, Axel PETZOLD, Philipp Albrecht, Paul Friedemann

Center(s) : Hospital Clinic De Barcelona, Spain ; Amsterdam University Medical Center / Leiden University Medical Center ; Universitätsklinikum Düsseldorf, AöR, Germany ; Charité - Universitätsmedizin Berlin, Germany

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

Functional Vision Assessment Over 4 Years in USH2A Using the Veteran Affairs Low-Vision Visual Functioning Questionnaire

Professional(s) : Isabelle Audo, Katarina Stingl

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany

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

Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study

Professional(s) : Isabelle Audo, Katarina Stingl

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany

Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study

Professional(s) : José-Alain Sahel, Katarina Stingl

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany

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

Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy

Professional(s) : Petra Liskova

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

Working group(s) : Anterior Segment Rare Eye Diseases (WG4)

Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy

Professional(s) : Alberta Thiadens, Petra Liskova, Susanne KOHL, Eberhart Zrenner

Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands ; Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Rigshospitalet, Copenhagen, Denmark

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

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Professional(s) : Elfride DE BAERE

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

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

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Professional(s) : Suzanne Yzer, Alberta Thiadens, Lonneke HAER-WIGMAN, Elfride DE BAERE, Susanne KOHL, Laura Kühlewein

Center(s) : Radboud university medical center, Nijmegen, Netherlands ; Erasmus MC: University Medical Center Rotterdam, Netherlands ; Ghent University Hospital, Ghent, Belgium ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany

Working group(s) : Genetic Diagnostics (TWG6)