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.
age >18 years
genetically confirmed diagnosis of USH2A-RP
availability of genetic tests to assess the pathogenic variants
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
* 60 patients affected by genetically-confirmed USH2A-RP, both males and females, age \>18 years * 10 healthy age- and gender- matched control subjects recruited among healthy patients undergoing general ophthalmological examinations in the outpatient departments
Case-control
Prospective
microRNAs analysis
Diagnostic testPatients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling
Clinical relevance of microRNAs in USH2A-RP
For all patients enrolled, at baseline, peripheral blood sampling will be collected.
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: * 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.
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