To investigate if there is an association with the R142W mutation in the RDS gene in a group of dry AMD patients from the North Limburg region
ID
Source
Brief title
Condition
- Ocular structural change, deposit and degeneration NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Difference in genetic profile (presence or absence of mutation) between
patients and control persons.
Secondary outcome
None.
Background summary
Atrophic age-related macular degeneration (AMD) shows many similarities to
central areolar choroidal dystrophy (CACD). CACD is an autosomal dominant
hereditary type of juvenile macular degeneration. CACD in patients from the
North Limburg region of the Netherlands is almost exclusively associated with a
R142W mutation in the RDS gene. Previous analysis of the R142W variant in a
small group of dry AMD patients lead to the hypothesis that a significant part
of patients with dry AMD from the North Limburg region carries this R142W
variant.
Study objective
To investigate if there is an association with the R142W mutation in the RDS
gene in a group of dry AMD patients from the North Limburg region
Study design
Mutation screening in 2 groups: one group of 100 dry AMD patients , one group
of persons aged 75 or older without visual complaints.
Study burden and risks
Venous blood is drawn once by means of the "Vacutainer" system.
Philips van Leydenlaan 15
6500 HB Nijmegen
Nederland
Philips van Leydenlaan 15
6500 HB Nijmegen
Nederland
Listed location countries
Age
Inclusion criteria
dry age-related macular degeneration
North-Limburg origin
Exclusion criteria
no North Limburg origin
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL13327.091.06 |