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Retrospective clinical and genetic analysis of Best disease and autosomal recessive BEST1 retinopathy: relationships between genotype, phenotype, and disease course

Retrospective clinical and genetic analysis of Best disease and autosomal recessive BEST1 retinopathy: relationships between genotype, phenotype, and disease course

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
DRKS
Registry ID
DRKS00039940
Enrollment
41
Registered
2026-04-22
Start date
2026-06-01
Completion date
Unknown
Last updated
2026-04-27

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

Conditions

BEST1-associated retinopathy

Interventions

Group 1: A retrospective analysis of all patients who presented at the University Eye Clinic in Bonn between 2008 and 2024 with molecularly confirmed BEST1 retinopathy.

Sponsors

Universitäts-Augenklinik Bonn
Lead Sponsor

Eligibility

Sex/Gender
All
Age
18 Years to No maximum

Inclusion criteria

Inclusion criteria: A BEST1 mutation confirmed by molecular genetic analysis and a corresponding plausible phenotype

Exclusion criteria

Exclusion criteria: Absence of a molecularly confirmed BEST1 mutation

Design outcomes

Primary

MeasureTime frame
Based on the retrospective analysis, this study aims to investigate the longitudinal disease course of autosomal dominant and recessive bestrophinopathies and to assess the extent to which the prognoses of the two subgroups differ. In addition, the available data will be used to analyze the current state of care for patients with BEST1-associated retinopathy, using the Bonn outpatient clinic as a case study.—

Countries

Germany

Contacts

Public ContactPhilipp Herrmann

Universitäts-Augenklinik Bonn

philipp.herrmann@ukbonn.de+49 (0)228-287 15505

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: May 1, 2026