[Ophthalmological care of patients with Bardet-Biedl syndrome].

This study looked at 18 patients with Bardet-Biedl Syndrome (BBS) at a German eye hospital to better understand how the condition affects vision and what other symptoms patients experience. The researchers found that nearly all patients (17 out of 18) had a specific type of vision problem called retinitis pigmentosa, which causes gradual loss of peripheral (side) vision and night blindness. One patient had a different pattern affecting central vision. Beyond eye problems, half the patients had limb differences, and many had issues with weight, kidney/genital problems, and neurological symptoms. The study revealed a concerning finding: it took an average of 15 years from when patients first noticed vision problems until they received their correct genetic diagnosis. The researchers tested the patients' DNA and found mutations in several different BBS genes, showing that multiple genetic variations can cause this syndrome. The researchers emphasize that early diagnosis is crucial because it allows families to receive proper genetic counseling, helps doctors monitor how the condition progresses, and opens doors to appropriate treatments and potential future therapies. They stress that BBS patients need care from multiple specialists working together (eye doctors, kidney specialists, etc.) rather than just one type of doctor, since the syndrome affects many different parts of the body.

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. 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. 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). 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.