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Pr José-Alain Sahel

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Member info

Pr José-Alain Sahel

France

Working Group(s): Retinal Rare Eye Diseases (WG1), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Low Vision Daily Life and Patients Groups (TWG5), 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)
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Dr Christina Zeitz

France

Genetic Diagnostics (TWG6), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
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Dr Pierre-Olivier Barale

France

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Dr Elise Boulanger-Scemana

France

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Dr Catherine Vignal-Clermont

France

Neuro-Ophthalmology Rare Diseases (WG2)
Working Group Leader
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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

Clinical trials

A Post-Authorization, Multicenter, Multinational, Longitudinal,Observational Safety Registry Study for Patients Treated with Voretigene Neparvovec.

Observational
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NCT01736592 Active, Not recruiting

A Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt’s Macular Degeneration.

Interventional
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NCT02065011 Terminated

An Open-Label Study to Determine the Long Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B.

Interventional
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NCT01235624 Completed

Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci/Genes.

Interventional
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NCT01954953 Unknown

Clinical and Genetic Examination of Usher Syndrome Patients’ Cohort in Europe.

Observational
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NCT00422721 Completed

Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy.

Interventional
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NCT01892943 Completed

Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey.

Observational
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NCT01367444 Completed

Phase I/IIa Study of SAR422459 in Patients With Stargardt’s Macular Degeneration.

Interventional
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NCT04285398 Active, Not recruiting

Prospective Natural History Study of Retinitis Pigmentosa (PHENOROD2)

Observational
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NCT01505062 Completed

Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B.

Interventional
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VITAL Unknown

Prospective study of visual function in USHER syndrome induced by MYO7A mutation and retinotosis pigmentosa.

Observational
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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...

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

Quantitative measures of SP declined significantly over 2 years in USH2A-related retinal...

Shedding light on myopia by studying complete congenital stationary night blindness

The results provide a foundation to guide the development of pharmacological myopia...