Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.

Simons D.L., Boye S.L., Hauswirth W.W., Wu S.M.

Patients with Bardet-Biedl syndrome (BBS) experience severe retinal degeneration as a result of impaired photoreceptor transport processes that are not yet fully understood. To date, there is no effective treatment for BBS-associated retinal degeneration, and blindness is imminent by the second decade of life. Here we report the development of an adeno-associated viral (AAV) vector that rescues rhodopsin mislocalization, maintains nearly normal-appearing rod outer segments, and prevents photoreceptor death in the Bbs4-null mouse model. Analysis of the electroretinogram a-wave indicates that rescued rod cells are functionally indistinguishable from wild-type rods. These results demonstrate that gene therapy can prevent retinal degeneration in a mammalian BBS model.

Proc. Natl. Acad. Sci. U.S.A. 108:6276-6281(2011) [PubMed] [Europe PMC]

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health