Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

Prospective Open Label Clinical and Genetic Testing of Patients With Retinitis Pigment

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.

Inclusion Criteria:

• Patient fulfill the clinical characteristics for Retinitis Pigmentosa (AD, AR, X-linked, sporadic) as defined by the Retinitis pigmentosa consortium
• Results of perimetry for each eye show narrowing for 15 degrees or more.
• Patient is familiar with Participant information sheet
• Patient signed informed consent form

Non-inclusion Criteria:

• Participation in other clinical trials (or administration of investigational drugs) during 3 months prior inclusion
• Any conditions limiting compliance (dementia, neuropsychiatric disease, drug and alcohol abuse etc.)
• Medical history of traumatic injury of eyes, barotrauma, concussion, craniocerebral trauma, cerebrovascular accident
• Congenital multiple development orbit and eye malformations

Exclusion Criteria:

• Patient's refusal from the further participation in the trial
• Decompensated diabetes mellitus
• Severe coronary artery disease
• Chronic infectious disease
• Patients with malignant tumors including postoperative period, patients receiving chemotherapy and/or radiotherapy