TürkiyeResearch and clinical trials
Türkiye's largest Bardet-Biedl series: a genetic cause found in all 25 patients
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Istanbul, 25 patients were tested with a multigene panel. A disease-causing gene change was found in all of them. Three changes were described for the first time. The most common finding was damage to the retina: 94%. This was followed by extra fingers or toes (88%), excess weight (68%) and kidney problems (52%).
What does it mean for patients and families?
A gene panel can clarify the diagnosis in this disease. Findings vary greatly from person to person. Team-based follow-up is important for monitoring the eyes, kidneys and weight.
Source
Scientific paper: Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort. European Journal of Pediatrics, 2025. DOI: 10.1007/s00431-025-06592-w · PubMed 41219488
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Bardet-Biedl syndrome (BBS)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.