Member info
Dr Christina Zeitz
France
Working Group(s): Retinal Rare Eye Diseases (WG1), Genetic Diagnostics (TWG6), Registries & Epidemiology (TWG7), Research (TWG8)
Team
Pr Isabelle Audo
France
Genetic Diagnostics (TWG6), Low Vision Daily Life and Patients Groups (TWG5), National Integration (TWG9), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Pr José-Alain Sahel
France
Genetic Diagnostics (TWG6), Low Vision Daily Life and Patients Groups (TWG5), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Dr Catherine Vignal-Clermont
France
Neuro-Ophthalmology Rare Diseases (WG2)
Working Group Leader
HCP Center
The Reference Center REFERET is specialized in genetic diseases of the retina, macula and the optic nerve. It brings together three sites with...
contact
RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France
28 Rue de Charenton
75012 Paris
France
Scientific publications
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
A comprehensive study applying direct Sanger sequencing of the gene‐coding regions, exome and genome sequencing applied to a large cohort of...
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series
Our data support the hypothesis that CACNA1F could be related to early-onset or congenital optic nerve involvement without any signs of a...
Shedding light on myopia by studying complete congenital stationary night blindness
The results provide a foundation to guide the development of pharmacological myopia...