Congenital Deafness, Retinitis Pigmentosa, Usher Syndrome
Conditions
Brief summary
This study is aimed to characterize Russian population of Usher patients.
Detailed description
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.
Interventions
None listed
Sponsors
Burnasyan Federal Medical Biophysical Center
Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia
Federal State Budgetary Institution Research Center for Medical Genetics
ANO Laboratory Sensor-Tech
Oftalmic LLC
Deaf-Blind Support Foundation Con-nection
Sensor Technology for Deafblind
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* Patient fulfill the clinical characteristics for Usher syndrome type I, II or III as defined by the Usher syndrome consortium * According to the results of audiometry, hearing loss is moderate or severe (level of acoustic threshold of audibility is 41 decibel and higher). * 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
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Changes in visual acuity | Up to 4 weeks | Measured by visometry |
| Changes in structures of fundus of the eye-1 | Up to 4 weeks | Measured by ophthalmoscopy |
| Changes in structures of fundus of the eye-2 | Up to 4 weeks | Measured by optical coherence tomography |
| Changes in visual field | Up to 4 weeks | Measured by perimetry |
| Changes in retinal ganglion cell dysfunction | Up to 4 weeks | Measured by electroretinography |
| Changes in brain visual cortex neural pathways | Up to 4 weeks | Measured by visually evoked potentials |
| Changes in optical refraction | Up to 4 weeks | Measured by refractometry |
| Changes in intraocular pressure | Up to 4 weeks | Measured by pneumotonometry |
| Changes in the lens, cornea, anterior segment of the eye | Up to 4 weeks | Measured by biomicroscopy |
| Changes in hearing-1 | Up to 4 weeks | Measured by tonal audiometry |
| Changes in hearing-2 | Up to 4 weeks | Measured by electronic audiometry (ASSR test) |
| Changes in efficient sound transmission in the middle ear | Up to 4 weeks | Measured by acoustic impedance measurement |
| Changes in vestibular functions | Up to 4 weeks | Measured by vestibulometry |
| Changes in vestibular reactions | Up to 4 weeks | Measured by electronystagmography |
Countries
Russia
Outcome results
None listed