Hereditary Retinal Dystrophies
Conditions
Keywords
hereditary retinal dystrophies
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).
Interventions
PROCEDUREOCT-A
Optical coherence tomography angiography (OCT-A)
PROCEDUREVisual acuity (ETDRS)
Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study)
Sponsors
Fondation Ophtalmologique Adolphe de Rothschild
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
15 Years to No maximum
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
France
Outcome results
None listed