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[The Bardet-Biedl Syndrome - Diagnosis and Follow-up].

Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2020

Rohrschneider Klaus, Bolz Hanno Jörn

Abstract excerpt

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...

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PMID: 32182628
DOI: 10.1055/a-1118-3748

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