Retinitis Pigmentosa Clinical Trial
Official title:
Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome
This study is aimed to characterize Russian population of Usher patients.
This study is aimed to characterize Russian population of Usher patients.
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.
Patients with clinically confirmed Usher syndrome will be evaluated according to available
data of the clinical examination.
Stage 2. 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
- Tonal audiometry
- Electronic audiometry (ASSR test)
- Acoustic impedance measurement
- Vestibulometry
- Electronystagmography
- Any additional examinations and consultations if necessary
Medical record will be developed and maintained for each patient consisting results of
extended clinical examination.
Stage 3. 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. Statistical and bioinformatic analysis
of detected genetic mutations in the study cohort will be performed.
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