Informations sur les membres
Pr José-Alain Sahel
France
ÉQUIPE
Pr Isabelle Audo
France
Dr Christina Zeitz
France
Dr Catherine Vignal-Clermont
France
Centre de soins de santé
contact
RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France
Essais cliniques
A Post-Authorization, Multicenter, Multinational, Longitudinal,Observational Safety Registry Study for Patients Treated with Voretigene Neparvovec.
A Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt’s Macular Degeneration.
An Open-Label Study to Determine the Long Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B.
Argus® II Retinal Prosthesis System: Post-Market Study
Argus® II Retinal Stimulation System Feasibility Protocol.
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci/Genes.
Clinical and Genetic Examination of Usher Syndrome Patients’ Cohort in Europe.
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy.
Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey.
Phase I/IIa Study of SAR422459 in Patients With Stargardt’s Macular Degeneration.
Prospective Natural History Study of Retinitis Pigmentosa (PHENOROD2)
Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B.
Prospective study of visual function in USHER syndrome induced by MYO7A mutation and retinotosis pigmentosa.
Publications scientifiques
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
Une étude complète appliquant le séquençage direct de Sanger des régions codantes des gènes, le séquençage de l'exome et du génome appliqué à une large cohorte de...
Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years
Les mesures quantitatives de SP ont diminué de manière significative sur 2 ans dans la rétine liée à USH2A...
Shedding light on myopia by studying complete congenital stationary night blindness
Les résultats fournissent une base pour guider le développement de la myopie pharmacologique...