Scientific Publications

Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)

Professional(s) : Rupert STRAUSS, Isabelle Audo

Center(s) : Department of ophthalmology, Kepler University Clinic Linz, Linz, Austria ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

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

New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot

Professional(s) : Elfride DE BAERE

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

Working group(s) : Genetic Diagnostics (TWG6)

Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases

Professional(s) : Elfride DE BAERE

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

Working group(s) : Genetic Diagnostics (TWG6)

Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis

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

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

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

KCNV2-associated retinopathy: genotype-phenotype correlations – KCNV2 study group report 3

Professional(s) : Fadi Nasser, Alberta Thiadens, Susanne KOHL, Camiel BOON, Eberhart Zrenner

Center(s) : Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Erasmus MC: University Medical Center Rotterdam, Netherlands ; Amsterdam University Medical Center / Leiden University Medical Center

Working group(s) : Genetic Diagnostics (TWG6) , Retinal Rare Eye Diseases (WG1)

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

Professional(s) : João Pedro Marques, Isabelle MEUNIER

Center(s) : Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

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

Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years

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

Center(s) : Radboud university medical center, Nijmegen, Netherlands ; 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)

Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa

Professional(s) : Alberta Thiadens, Carel HOYNG, Bart LEROY, Reda ZEMAITIENE, Camiel BOON

Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands ; Radboud university medical center, Nijmegen, Netherlands ; Ghent University Hospital, Ghent, Belgium ; Hospital of Lithuanian University of Health Sciences, Kauno Klinikos, Kaunas, Lithuania ; Amsterdam University Medical Center / Leiden University Medical Center

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

Repeatability of Quantitative Autofluorescence Imaging in a Multicenter Study Involving Patients With Recessive Stargardt Disease 1

Professional(s) : Katarina Stingl, Camiel BOON, Philipp Herrmann, Carel HOYNG, Thomas Wheeler-Schilling

Center(s) : Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Amsterdam University Medical Center / Leiden University Medical Center ; University of Bonn, Germany ; Radboud university medical center, Nijmegen, Netherlands

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

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