[Bardet-Biedl syndrome-diagnosis, care and treatment approaches].

Authors

Laura Kühlewein, Ulrich Kellner, Herbert Jägle, Karsten Hufendiek, Maximilian-Joachim Gerhardt, Anna M Lentzsch, Rupert W Strauss, Vinodh Kakkassery, Susanne Kohl, Metin Cetiner, Johannes Birtel

Published in

Die Ophthalmologie. Oct 21, 2026. Epub Oct 21, 2026.

Abstract

The Bardet-Biedl syndrome (BBS) is a genetically determined multiorgan disorder characterized by congenital postaxial polydactyly, obesity, hyperphagia and retinal dystrophy that develops in childhood. The condition is heterogeneous both in terms of molecular genetics and clinically: it is caused by mutations in at least 26 genes, and the variable extraocular manifestations include developmental delay, diabetes mellitus and fatty liver. The retinal dystrophy is also heterogeneous and presents with a broad phenotypic spectrum. While there is no specific treatment option for the retinal dystrophy, an approved treatment exists for the hyperphagia-related obesity. In addition to primary care, BBS patients should receive interdisciplinary care at specialized centers. Since 2026, patients with BBS1-associated retinal dystrophy are being enrolled in an ocular gene therapy study to evaluate the preliminary safety and tolerability of AXV-101.

PMID:
42905171
Bibliographic data and abstract were imported from PubMed on 23 Oct 2026.

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