Como entrar em contato com o centro
Centro de saúde
Os objetivos do centro são:
Proporcionar ao paciente e à sua família um atendimento médico (oftalmológico e genético em particular), ortóptico (reabilitação, visão subnormal), psicológico e social, coerente e abrangente.
Garantir a interligação com os médicos assistentes e correspondentes, as redes médicas e psicossociais de gestão da baixa visão e as associações de pacientes.
Desenvolver e participar em programas de investigação dedicados à genética oftalmológica a nível local, nacional e internacional.
Contato
CARGO, Hôpitaux Universitaires de Strasbourg, France
A Nossa Equipa
Pr Hélène Dollfus
França
Dr Monika Grudzinska Pechhacker
França
Dr Dorothée Leroux
França
Dr Isabella Vacchi
França
Dr Amélie Gavard
França
Caroline Wernert-Iberg
França
Ensaios clínicos
Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-BiedlSyndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity.
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).
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).
Holistic Mixed Approaches to Capture the Real Life of Children With Rare Eye Diseases