Universität zu Köln

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

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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:	Creators Email ORCID ORCID Put Code Rohrschneider, Klaus UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno Joern UNSPECIFIED UNSPECIFIED UNSPECIFIED
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
Uncontrolled Keywords:	Keywords Language PROTEINS; CILIA Multiple languages Ophthalmology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/34234