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Study of the natural history of Best vitelliform dystrophy, autosomal recessive bestrophinopathy and autosomal dominant vitreoretinochoroidopathy linked to mutations in the BEST1 gene

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Clinical Trial

Recruiting, Active
Study of the natural history of Best vitelliform dystrophy, autosomal recessive bestrophinopathy and autosomal dominant vitreoretinochoroidopathy linked to mutations in the BEST1 gene
Observational

Disease

Disease type

Best disease

Inclusion / Exclusion

Opening date

12/01/2021

Closing date

13/12/2028

Sexe masculin ou féminin ; âge compris entre 3 ans et 90 ans ; présentant une dystrophie vitelliforme de Best, ou d’ARB ou d’ADVIRVC liée à des mutations sur le gène BEST1

Funding

Public

Members involved

Main investigators

Pr Isabelle Audo

Representative

France

Genetic Diagnostics (TWG6), Low Vision Daily Life and Patients Groups (TWG5), National Integration (TWG9), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
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ERN EYE member investigating site

HCP : Principal investigators