Retinal phenotype of patients with hereditary defects in lipid metabolism

Retinal phenotype of patients with hereditary defects in lipid metabolism - Lipid metabolism-related proteins and the structure of the retina

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON50963

Enrollment

Registered

2021-07-29

Start date

2021-12-23

Completion date

Unknown

Last updated

2024-06-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hereditary disorders of lipid metabolism

Interventions

None listed

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

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

Exclusion criteria: Age under 18

Design outcomes

Primary

Measure	Time frame
The presence or absence of drusen on slitlamp evaluation or optical coherence tomography.	—

Secondary

Measure	Time frame
Morphology of the drusen Other optical coherence tomography characteristics such as choroidal thickness, choroid vessel density, retinal layer thickness. Other peripheral and central retinal abnormalities Visual acuity (Visus)	—

Countries

Netherlands

Outcome results