Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

ABSTRACT:

Background

Bardet-Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to describe the retinal, oral, and metabolic characteristics relevant to adults with BBS as well as the prevalence of genetic variants.

Methods

A cross-sectional study of 30 adults with BBS (15 males, 15 females, mean age 39.8 ± 13.6 years) was recruited from a single centre for rare disorders in Norway. Participants attended a one day hospital visit including medical (blood pressure, body mass index), ophthalmological and oral examinations. Blood samples were collected and genetic analyses were performed.

Results

Age at diagnosis varied from one year to 30 y

SUBMITTER: Rustad CF 

PROVIDER: S-EPMC11909833 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature