Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F)
- Conditions
- retinal degenerationRetinal dystrophyretinitis pigmentosa1001592010010463
- Registration Number
- NL-OMON50300
- Lead Sponsor
- JAEB Center for Health Research
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 2
Inclusion Criteria
1. Willing and be able to complete the informed consent process, by patient
self of parents in case of minors
2. Ability to return for all study visits over 48 months if in the natural
history study
3. Age 8 years and older
4. Have retinal dystrophy caused by mutations in the PCDH15 gene, as identified
by a clinically certified lab
Exclusion Criteria
1. Have other mutations in your DNA that could cause retinal degeneration
2. be planning to enter a study, testing treatments for retinal degeneration
during the time of this study
3. have a history of treatment that could have affected the retina
4. Have had certain eye surgeries that may affect the tests for this study
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Visual field sensitivity measured by static perimetry, best corrected visual<br /><br>acuity, mean retinal sensitivity as measured by fundus guided microperimetry,<br /><br>ellipsoid zone area as measured by spectral-domain optical coherence<br /><br>tomography, retinal function using timing in response to rod- and cone-specific<br /><br>stimuli.</p><br>
- Secondary Outcome Measures
Name Time Method <p>n/a</p><br>