Rohrschneider, Klaus and Bolz, Hanno Joern (2020). The Bardet-Biedl Syndrome - Diagnosis and Follow-up. Klinische Monatsblat. Augenheilkunde, 237 (3). S. 239 - 248. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3999
Full text not available from this repository.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.
Item Type: | Journal Article | ||||||||||||
Creators: |
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URN: | urn:nbn:de:hbz:38-342347 | ||||||||||||
DOI: | 10.1055/a-1118-3748 | ||||||||||||
Journal or Publication Title: | Klinische Monatsblat. Augenheilkunde | ||||||||||||
Volume: | 237 | ||||||||||||
Number: | 3 | ||||||||||||
Page Range: | S. 239 - 248 | ||||||||||||
Date: | 2020 | ||||||||||||
Publisher: | GEORG THIEME VERLAG KG | ||||||||||||
Place of Publication: | STUTTGART | ||||||||||||
ISSN: | 1439-3999 | ||||||||||||
Language: | German | ||||||||||||
Faculty: | Unspecified | ||||||||||||
Divisions: | Unspecified | ||||||||||||
Subjects: | no entry | ||||||||||||
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URI: | http://kups.ub.uni-koeln.de/id/eprint/34234 |
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