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