No registrations found.
ID
Source
Brief title
Health condition
Age-related macular degeneration, hereditary mutations in lipid metabolism
Sponsors and support
Intervention
Outcome measures
Primary outcome
Presence or absence of retinal drusen
Secondary outcome
Morphology of drusen and other signs of AMD, optical coherence tomography (+OCT angiography) characteristics, visual acuity, mid-peripheral and peripheral retinal changes
Background summary
Patients with pathological mutations in genes involved in lipid metabolism may have an increased risk of developing retinal drusen, or macular degeneration. In this cross-sectional observational study, we will describe the retinal phenotype of patients with mutations in genes associated with lipid metabolism.
Study objective
In patients with specific mutations in lipid metabolism we will find retinal abnormalities that can be identified as (a precursor of) age-related macular degeneration.
Study design
Single visit.
Inclusion criteria
- At least 18 years of age.
- Have one or more mutations in lipid metabolism
Exclusion criteria
- Age under 18 years
Design
Recruitment
IPD sharing statement
Followed up by the following (possibly more current) registration
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL9869 |
| CCMO | NL76299.018.21 |
| OMON | NL-OMON50963 |