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Aim of the study is to perform a non-invasive multimodal retinal imaging investigation in a cohort of patients affected by USH2A retinitis pigmentosa (USH2A-RP), in order to develop a new diagnostic paradigm to categorize clinically relevant subgroups. All the procedures will be performed according to normal clinical practice. In addition, a novel quantitative profiling of serum microRNAs will be carried out in order to analyze the clinical importance of microRNA biomarkers in the clinical setting of the disease.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| USH2A-RP | Patients affected by genetically-confirmed USH2A-RP. |
| |
| controls | Healthy control subjects |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| microRNAs analysis | Diagnostic Test | Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling |
|
| Measure | Description | Time Frame |
|---|---|---|
| Clinical relevance of microRNAs in USH2A-RP | For all patients enrolled, at baseline, peripheral blood sampling will be collected. | 6 months period following the last follow-up visit |
| Measure | Description | Time Frame |
|---|---|---|
| To test the association between specific microRNAs profiles and the quantitative multimodal retinal imaging findings | At baseline and month 12 follow-up visit, all enrolled patients with a genetically confirmed diagnosis of USH2A-RP, will undergo the following procedures:
|
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Inclusion Criteria:
Exclusion Criteria:
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| 6 months period following the last follow-up visit |