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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).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with suspicion of hereditary retinal dystrophy |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| OCT-A | Procedure | Optical coherence tomography angiography (OCT-A) |
|
| Measure | Description | Time Frame |
|---|---|---|
| Description of the phenotypic characteristics of patients with hereditary retinal dystrophies. | 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). | Baseline |
| Description of the genotypic characteristics of patients with hereditary retinal dystrophies. | 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 | Baseline |
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Inclusion Criteria:
Exclusion Criteria:
- Patient under a measure of legal protection
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Patients hospitalized for suspicion of hereditary retinal distrophy
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| Name | Affiliation | Role |
|---|---|---|
| Elise BOULANGER SCEMAMA | Fondation Ophtalmologique A. de Rothschild | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Fondation ophtalmologique Adolphe de Rothschild | Paris | 75019 | France |
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| Visual acuity (ETDRS) | Procedure | Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study) |
|
| ID | Term |
|---|---|
| D014792 | Visual Acuity |
| ID | Term |
|---|---|
| D014787 | Vision Tests |
| D003941 | Diagnostic Techniques, Ophthalmological |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D009799 | Ocular Physiological Phenomena |
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