This study is aimed to characterize Russian population of Retinitis Pigmentosa.~Tasks:~Stage 1. Formation of the primary cohort of patients. Patients pre-recruiting will be performed based on Deaf-Blind Support Foundation Con-nection patient database analysis and from references. Patients with clinically confirmed Retinitis pigmentosa will be evaluated according to available data of the clinical examination.~Stage 2. Genetic study of patients. All enrolled patients will undergo single 4 ml peripheral venous blood sampling. DNA will be extracted from leucocytes. DNA samples will be analyzed and placed for long-term storage in liquid nitrogen. Stage 3. Clinical examination of patients.~Each patient will undergo the following diagnostic procedures according to the unified protocol:~Visometry (with correction and without correction)~Ophthalmoscopy~Perimetry~Optical coherence tomography~Electroretinography~Visually evoked potentials~Refractometry~Pneumotonometry~Biomicroscopy~Any additional examinations and consultations if necessary Medical record will be developed and maintained for each patient consisting results of extended clinical examination.~Statistical and bioinformatic analysis of detected genetic mutations in the study cohort will be performed.
This study is aimed to characterize Russian population of Retinitis Pigmentosa