Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

Overview

This study is aimed to characterize Russian population of Retinitis Pigmentosa

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.

Conditions

Interventions

Eligibility

Locations (2)

Outcomes