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[The Bardet-Biedl Syndrome - Diagnosis and Follow-up]
Klaus Rohrschneider1, Hanno Jörn Bolz2,3
1Augenklinik, Universitätsklinikum Heidelberg, Heidelberg.
Insights
Bardet-Biedl syndrome (BBS) is a rare genetic disorder affecting cilia, causing vision loss and other symptoms. Genetic testing using next-generation sequencing aids diagnosis, but treatment focuses on managing symptoms and visual rehabilitation.
Area of Science:
- Genetics
- Ophthalmology
- Developmental Biology
Background:
- Bardet-Biedl syndrome (BBS) is a rare inherited ciliopathy.
- It presents with a spectrum of symptoms including rod-cone dystrophy (retinitis pigmentosa), obesity, polydactyly, renal abnormalities, and learning difficulties.
- The condition arises from dysfunction in primary cilia, essential for developmental signaling pathways.
Purpose of the Study:
- To highlight the diagnostic utility of next-generation sequencing (NGS) for Bardet-Biedl syndrome.
- To discuss the genetic heterogeneity and inheritance patterns in BBS.
- To outline current ophthalmological management strategies for BBS patients.
Main Methods:
- Next-generation sequencing (NGS) panels for simultaneous analysis of all BBS-associated genes.
- Review of current literature on genotype-phenotype correlations in BBS.
- Description of standard visual rehabilitation and low vision aid strategies.
Main Results:
- NGS enables simultaneous genetic analysis of multiple BBS genes, improving diagnostic accessibility for this genetically heterogeneous condition.
- Genotype-phenotype correlations for the retinal phenotype in BBS are not significant.
- While autosomal recessive inheritance is classical, oligogenic/triallelic inheritance appears to play a minor role.
Conclusions:
- Molecular genetic testing, particularly NGS, is crucial for diagnosing Bardet-Biedl syndrome.
- Current management focuses on supportive care and visual rehabilitation due to the lack of causal therapies.
- Understanding the genetic basis of BBS is key to improving patient outcomes and future therapeutic development.
Abstract:
The Bardet-Biedl syndrome (BBS) is a rare inherited ciliopathy, which is accompanied by retinal disease, i.e. rod-cone dystrophy (retinitis pigmentosa, RP) and other symptoms, especially truncal obesity, polydactyly, renal abnormalities as well as reduced intelligence or learning difficulties. 25 BBS genes are currently known, and these are responsible for the structure and function of primary cilia. Because ciliary integrity is crucial for numerous pathways of developmental signaling, their dysfunction may cause multisystemic disorders - like BBS. Physicians benefit greatly from new molecular genetic methods that have made genetically heterogeneous conditions diagnostically accessible: By next-generation sequencing (NGS), all BBS-associated genes can be analysed simultaneously in a gene panel. As regards the retinal phenotype, genotype-phenotype correlations are not significant. Besides classical autosomal recessive inheritance, oligogenic/triallelic traits have been reported, but these seem to play a minor role, if any (as a growing number of large-scale NGS-based studies suggests). In the absence of causal therapy, the mainstay of ophthalmological endeavour is focused on visual rehabilitation with low vision aids, use of the white cane and training to develop everyday life skills.
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