Understanding inherited blindness due to light-sensor cells with ‘broken antennas’

Overview

Photoreceptors are the light-sensitive cells that make up one layer of the retina, which lines the back of the eye. The photoreceptors can detect light because they have sensors called ‘cilia’ that stick out from the cell body like an antenna.

These cilia contain proteins called opsins that change shape when light reaches them. Photoreceptors are very busy places and there is a high turnover of opsins. The cilia help to transport the opsins to and from the right part of the cell. If this process doesn’t work correctly, the photoreceptors become damaged and then die.

Dr Osborn’s research group has been studying cilia with a focus on Bardet Biedl syndrome. It’s a rare inherited condition that affects around 1 in 160,000 people worldwide. Night vision goes first, starting in mid-childhood. This becomes tunnel vision and by early adulthood central vision goes and people become legally blind.

There are 20 genes linked to the condition but we don’t yet understand how exactly they lead to damage in the retina. In this project the team is studying these genes in zebrafish to find out what they do and what effect they have when they’re not working. The aim is to understand the biological pathways and find potential targets for drug treatment to prevent cell death in the retina.