Retinal phenotype of patients with hereditary defects in lipid metabolism
Recruiting
- Conditions
- Hereditary disorders of lipid metabolism10042261
- Registration Number
- NL-OMON50963
- Lead Sponsor
- Academisch Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 50
Inclusion Criteria
Age 18 and above
Patients with mutations in genes encoding proteints associated with lipid
metabolism, including but not limited to: hom-ABCA1, LDL receptor, apo E2E2, as
well as patients suffering from a-beta lipoproteinemia.
Exclusion Criteria
Age under 18
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The presence or absence of drusen on slitlamp evaluation or optical coherence<br /><br>tomography.</p><br>
- Secondary Outcome Measures
Name Time Method <p>Morphology of the drusen<br /><br>Other optical coherence tomography characteristics such as choroidal thickness,<br /><br>choroid vessel density, retinal layer thickness.<br /><br>Other peripheral and central retinal abnormalities<br /><br>Visual acuity (Visus)</p><br>