Member info
Pr Hélène Dollfus
France
About
Team
Dr Isabella Vacchi
France
Dr Amélie Gavard
France
Caroline Wernert-Iberg
France
HCP Center
contact
CARGO, Hôpitaux Universitaires de Strasbourg, France
Clinical trials
Argus® II Retinal Prosthesis System: Post-Market Study
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci/Genes.
Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults.
Clinical implication of Retinitis Pigmentosa molecular diagnostic using high throughput sequencing (RP-SEQ-HD).
Clinical Study of a single ciliopathy: Alström Syndrome.
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy.
Historical Case Record Survey of Visual Acuity Data From Patients With Leber’s Hereditary Optic Neuropathy (LHON).
Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-BiedlSyndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity.
Trisomy 21 in Adulthood : a medical and social situation in Alsace.
A double-masked, randomized, controlled, multiple-dose study to evaluate the efficacy, safety, tolerability and systemic exposure of QR-110 in Subjects with Leber’s Congenital Amaurosis (LCA) due to c.2991+1655A>G mutation (p.Cys998X) in the CEP290 gene (Illuminate).
Self-confidence Study in Patients With Argus II Artificial Retina.
Holistic Mixed Approaches to Capture the Real Life of Children With Rare Eye Diseases
Scientific publications
Hydroxychloroquine hitting the headlines – retinal considerations
In this editorial, we highlight the importance of careful use of these drugs, because of their potential to cause an irreversible toxic...
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...
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in...
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
We provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to...
Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?
MRI is the gold standard to confirm congenital corneal anesthesia and to differentiate from other possible neurotrophic keratitis...
The European Reference Networks for rare and complex diseases respond to the Ukrainian crisis
The ERNs fully support the Ukrainian health professionals involved in rare diseases care and plea for a status to integrate the...
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Using parsimonious assumptions, we reconstructed the composition and copy number of the OPN1LW/ OPN1MW gene cluster prior to the mutation event...
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net
This second multinational survey on management of IRDs in Europe highlights persistent important differences in the number of IRD patients managed...
Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey
An electronic survey questionnaire with 48 questions specifically addressing RPE65-IRD (2019 survey 35) was developed and sent by June 2021 to 95...
An ontological foundation for ocular phenotypes and rare eye diseases
To our knowledge, this is the first effort of such scale to provide terminology standards for the rare eye disease...
Consensus clinical management guidelines for Alström syndrome
These guidelines are addressed to: a) specialist centres, other hospital-based medical teams and staffs involved with the care of ALMS patients,...
