A Complex Problem

Bardet-Biedl syndrome (BBS) is a complex disease. More than 15 inherited gene changes have been implicated in the condition, and it affects sight, smell, growth, behaviour, and more. These problems all come down to faults in cilia – tiny sensory hairs on the surface of cells. One place that’s packed with cilia is the retina at the back of the eye, which senses light, so it’s unsurprising that people with BBS have sight problems. These images show slices from the retina of mice, with the distinct layers highlighted with different coloured stains. The top left three panels are from a healthy animal, while the other sets of images are from animals with genetic faults linked to BBS, which haven’t properly formed the layers in the retina. By figuring out what’s gone wrong in these cells, researchers hope to gather new clues to understand BBS and develop ways to save patients’ sight.

Written by Kat Arney

Kat Arney

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Dr Kat Arney is an award-winning science writer, broadcaster and public speaker, and is the founder and Creative Director of First Create The Media.

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• Image from work by Ying Hsu and colleagues
• Department of Pediatrics, University of Iowa, Iowa City, IA, USA
• Image originally published under a Creative Commons Licence (BY 4.0)
• Published in PLOS Genetics, October 2017