Phenotyping and genotyping of retinal dystrophies in the Netherlands.
Recruiting
- Conditions
- retinal dystrophyretinitis pigmentosa10015920
- Registration Number
- NL-OMON44665
- Lead Sponsor
- Oogziekenhuis Rotterdam
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 5100
Inclusion Criteria
One of the following syndromic or non-syndromic retinal dystrophies:
- retinitis pigmentosa,
- Leber congenital amaurosis,
- cone-rod dystrophy,
- cone-dystrophy,
- achromatopsia,
- Stargardt disease,
- choroideremia,
- X-linked juvenile retinoschisis,
- Usher syndrome,
- Bardet Biedl syndrome,
- Best disease,
- retinal dystrophy closely linked to one of those mentioned above.
All modes of inheritance and ages may be considered.
Exclusion Criteria
None.
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Extensive clinical characterizations of a large group of retinal dystrophy<br /><br>patients. Identification of pathologic genetic variants in genes that are known<br /><br>to, or likely to be involved in retinal dystrophies. </p><br>
- Secondary Outcome Measures
Name Time Method <p>n.a.</p><br>