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Pr Hélène Dollfus

In this page

Member info

Pr Hélène Dollfus

Representative

France

Working Group Leader: CPMS & Digital Medecine (TWG10), National Integration (TWG9)
Other Working Group(s): Retinal Rare Eye Diseases (WG1), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Anterior Segment Rare Eye Diseases (WG4), Low Vision Daily Life and Patients Groups (TWG5), Genetic Diagnostics (TWG6), Registries & Epidemiology (TWG7), Research (TWG8), National Integration (TWG9), CPMS & Digital Medecine (TWG10), Epag, ERN-EYE Coordinating committee

About

Professor of Universities and Hospital Practitioner (PU-PH) in Medical Genetics and Ophthalmology. Head of the Medical Genetics Department of the Strasbourg University Hospitals (HUS), Coordinator of the Rare Diseases in Ophthalmic Genetics Reference Center (CARGO), as well as the national rare diseases branche SENSGENE, Director of the Medical Genetics Laboratory, Instigator of the future Institute of Medical Genetics of Alsace (IGMA), President of the scientific council of Retina France and Coordinator of the project ERN-EYE

Team

Dr Jérôme De Sèze

France

Neuro-Ophthalmology Rare Diseases (WG2)
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Dr Dorothée Leroux

France

Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), Epag, ERN-EYE Coordinating committee, 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)
Working Group Leader
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Dr Isabella Vacchi

France

Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), 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 Amélie Gavard

France

Anterior Segment Rare Eye Diseases (WG4), BBS Guidelines, CPMS & Digital Medecine (TWG10), Epag, ERN-EYE Coordinating committee, 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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Caroline Wernert-Iberg

France

Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), Epag, ERN-EYE Coordinating committee, 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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Francesco Rotolo

France

CPMS & Digital Medecine (TWG10)
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HCP Center

The Reference Center for Rare Disorders in Ophthalmic Genetics (CARGO) was created in the National Rare Diseases Plan in November 2004. It welcomes...

contact

CARGO, Hôpitaux Universitaires de Strasbourg, France

Hôpital Civil -Bâtiment du Centre de Recherche en Biomédecine de Strasbourg (CRBS),1 Rue Eugène Boeckel
67000 STRASBOURG
France

Clinical trials

NCT01235624 Completed

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

Interventional
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NCT00213811 Completed

Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults.

Observational
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NCT02860520 Unknown

Clinical implication of Retinitis Pigmentosa molecular diagnostic using high throughput sequencing (RP-SEQ-HD).

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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NCT02796274 Completed

Historical Case Record Survey of Visual Acuity Data From Patients With Leber’s Hereditary Optic Neuropathy (LHON).

Interventional
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NCT03746522 Completed

Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-BiedlSyndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity.

Interventional
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NCT01663675 Recruiting Active

Trisomy 21 in Adulthood : a medical and social situation in Alsace.

Observational
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