Rate of Progression in EYS Related Retinal Degeneratio
Recruiting
- Conditions
- 1001592010010463Retinal dystrophyretinitis pigmentosa
- Registration Number
- NL-OMON49574
- Lead Sponsor
- JAEB Center for Health Research
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 6
Inclusion Criteria
1. Willing and able to complete the informed consent process
2. Ability to return for all study visits over 48 months if in the natural
history study
3. Age >=18 years
4. Have retinal degeneration caused by mutations in the EYS gene, as defined 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 full-field electroretinography amplitudes<br /><br>and timing in response to rod- and cone-specific stimuli.</p><br>
- Secondary Outcome Measures
Name Time Method <p>not applicable</p><br>