Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Hereditary Retinal Dystrophies
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Enrollment
- 103
- Locations
- 1
- Primary Endpoint
- Description of the genotypic characteristics of patients with hereditary retinal dystrophies.
- Status
- Terminated
- Last Updated
- 4 months ago
Overview
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).
Investigators
Eligibility Criteria
Inclusion Criteria
- •Patients hospitalized for suspicion of hereditary retinal dystrophy
- •Benefiting as part of the care of a genetic analysis
Exclusion Criteria
- •\- Patient under a measure of legal protection
Outcomes
Primary Outcomes
Description of the genotypic characteristics of patients with hereditary retinal dystrophies.
Time Frame: 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
Description of the phenotypic characteristics of patients with hereditary retinal dystrophies.
Time Frame: 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).