USH2A Variant Retinitis Pigmentosa
Conditions
Brief summary
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.
Interventions
DIAGNOSTIC_TESTmicroRNAs analysis
Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling
Sponsors
IRCCS Ospedale San Raffaele
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* age \>18 years * genetically confirmed diagnosis of USH2A-RP * availability of genetic tests to assess the pathogenic variants
Exclusion criteria
* inability to understand and sign the written informed consent form * any inflammatory, infectious or degenerative eye disease * media opacities resulting incompatible with good imaging quality * uncontrolled systemic, metabolic, autoimmune neuroinflammatory and neurodegenerative disease * ophthalmologic surgery within the previous six months
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Clinical relevance of microRNAs in USH2A-RP | 6 months period following the last follow-up visit | For all patients enrolled, at baseline, peripheral blood sampling will be collected. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| To test the association between specific microRNAs profiles and the quantitative multimodal retinal imaging findings | 6 months period following the last follow-up visit | At baseline and month 12 follow-up visit, all enrolled patients with a genetically confirmed diagnosis of USH2A-RP, will undergo the following procedures: * complete ophthalmic examination, including best corrected visual acuity measurement using standard ETDRS charts, intraocular pressure, slit-lamp biomicroscopy of the anterior and posterior segment; * multimodal retinal imaging including: Ultrawide field imaging either with Optos devices; Blue-light fundus autofluorescence (FAF); Infrared imaging (IR); Multicolor imaging with Spectralis SD-OCT; Optical coherence tomography (OCT) with Spectralis SD-OCT; Optical coherence tomography angiography (OCTA) of the macula; visual field with standard 30.2 test pattern by Humphrey field analyzer. |
Outcome results
None listed