Background and research question: Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by a wide range of symptoms and clinical signs. The aim of the current work is to provide a comprehensive overview of the clinical and genetic features of BBS patients, with a focus on ophthalmological manifestations.
Material and methods: In a retrospective analysis at the University Eye Hospital Bonn, data from 18 patients with a molecular genetically confirmed diagnosis of BBS were analyzed. In addition to the medical history, clinical examination included multimodal imaging, the collection of functional data and molecular genetic diagnostics.
Results: 17 patients (17/18; 94%) presented typical retinal changes consistent with retinitis pigmentosa (RP) and 1 patient (1/18; 6%) showed a central cone-rod dystrophy without peripheral changes. In addition, other nonophthalmological symptoms and clinical signs, such as limb abnormalities (9/18; 50%), obesity (7/18; 39%), urogenital tract abnormalities (7/18; 39%) and neurological symptoms (8/18; 44%) were noted. Molecular genetic analyses revealed disease-causing variants in several BBS genes, including the BBS1 (Bardet-Biedl syndrome)1 gene (9), BBS10 (3), BBS7 (1), BBS12 (1) and the MKKS (McKusick-Kaufmann syndrome) gene (2). The average time between the onset of the first ophthalmological symptoms and the final genetic diagnosis was 15 years (median 10 years, range 1-36 years).
Conclusion: This study emphasizes the importance of an interdisciplinary approach in the diagnosis and treatment of BBS patients. The clinical heterogeneity of BBS can lead to diagnostic delays. Early diagnosis enables appropriate genetic counseling, monitoring of disease progression, individualized treatment initiation and exploration of potential therapeutic interventions.
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