Phenotyping and genotyping of retinal dystrophies in the Netherlands.

Phenotyping and genotyping of retinal dystrophies in the Netherlands. - Phenotyping of RD.

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON44665

Enrollment

5100

Registered

2011-01-04

Start date

2011-08-18

Completion date

Unknown

Last updated

2024-05-06

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

Conditions

retinal dystrophy retinitis pigmentosa

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: None.

Design outcomes

Primary

Measure	Time frame
Extensive clinical characterizations of a large group of retinal dystrophy patients. Identification of pathologic genetic variants in genes that are known to, or likely to be involved in retinal dystrophies.	—

Secondary

Measure	Time frame
n.a.	—

Countries

Netherlands

Outcome results