Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
Study Details
Study Description
Brief Summary
This study will carry out a detailed descriptive analysis of a large population of patients with hereditary retinal dystrophies (HRD): clinical, paraclinical and genetic data.
The information drawn from these analyzes will provide a better understanding of the pathophysiology of these rare diseases and this may ultimately impact the medical management of patients (targeted therapy).
Condition or Disease | Intervention/Treatment | Phase |
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Study Design
Arms and Interventions
Arm | Intervention/Treatment |
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Patients with suspicion of hereditary retinal dystrophy
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Procedure: OCT-A
Optical coherence tomography angiography (OCT-A)
Procedure: Visual acuity (ETDRS)
Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study)
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Outcome Measures
Primary Outcome Measures
- Description of the phenotypic characteristics of patients with hereditary retinal dystrophies. [Baseline]
Phenotypic diagnosis of the type of retinal dystrophy based on all the examinations performed as part of the usual care and examinations added by the research (OCT-Angiography - Optical coherence tomography, and visual acuity with ETDRS scale : Early Treatment Diabetic Retinal Study, ETDRS).
- Description of the genotypic characteristics of patients with hereditary retinal dystrophies. [Baseline]
Determination of the genetic mutations responsible for retinal dystrophy in order to confirm the phenotypic diagnosis and identify correlation between the phenotypic and genotypic characteristics
Eligibility Criteria
Criteria
Inclusion Criteria:
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Patients hospitalized for suspicion of hereditary retinal dystrophy
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Benefiting as part of the care of a genetic analysis
Exclusion Criteria:
- Patient under a measure of legal protection
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | Fondation ophtalmologique Adolphe de Rothschild | Paris | France | 75019 |
Sponsors and Collaborators
- Fondation Ophtalmologique Adolphe de Rothschild
Investigators
- Principal Investigator: Elise BOULANGER SCEMAMA, Fondation Ophtalmologique A. de Rothschild
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- EBA_2017_21